-
1
-
-
0000228425
-
Disorders of peroxisome biogenesis
-
McGraw-Hill, New York, A.L. Beaudet, C.R. Scriver, W.S. Sly, D. Valle (Eds.)
-
Lazarow P.B., Moser H.W. Disorders of peroxisome biogenesis. The Metabolic Basis of Inherited Disease 1995, 2287-2324. McGraw-Hill, New York. A.L. Beaudet, C.R. Scriver, W.S. Sly, D. Valle (Eds.).
-
(1995)
The Metabolic Basis of Inherited Disease
, pp. 2287-2324
-
-
Lazarow, P.B.1
Moser, H.W.2
-
2
-
-
0013897667
-
Peroxisomes (microbodies and related particles)
-
De Duve C., Baudhuin P. Peroxisomes (microbodies and related particles). Physiol. Rev. 1966, 46:323-357.
-
(1966)
Physiol. Rev.
, vol.46
, pp. 323-357
-
-
De Duve, C.1
Baudhuin, P.2
-
3
-
-
77956867734
-
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism
-
Van Veldhoven P.P. Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism. J. Lipid Res. 2010, 51:2863-2895.
-
(2010)
J. Lipid Res.
, vol.51
, pp. 2863-2895
-
-
Van Veldhoven, P.P.1
-
4
-
-
34548166529
-
Rat liver peroxisomes after fibrate treatment. A survey using quantitative mass spectrometry
-
Islinger M., Luers G.H., Li K.W., Loos M., Volkl A. Rat liver peroxisomes after fibrate treatment. A survey using quantitative mass spectrometry. J. Biol Chem 2007, 282:23055-23069.
-
(2007)
J. Biol Chem
, vol.282
, pp. 23055-23069
-
-
Islinger, M.1
Luers, G.H.2
Li, K.W.3
Loos, M.4
Volkl, A.5
-
5
-
-
0345791524
-
Proteomic analysis of rat liver peroxisome: presence of peroxisome-specific isozyme of Lon protease
-
Kikuchi M., Hatano N., Yokota S., Shimozawa N., Imanaka T., Taniguchi H. Proteomic analysis of rat liver peroxisome: presence of peroxisome-specific isozyme of Lon protease. J. Biol. Chem. 2004, 279:421-428.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 421-428
-
-
Kikuchi, M.1
Hatano, N.2
Yokota, S.3
Shimozawa, N.4
Imanaka, T.5
Taniguchi, H.6
-
6
-
-
34250336949
-
Quantitative proteomic comparison of mouse peroxisomes from liver and kidney
-
Mi J., Kirchner E., Cristobal S. Quantitative proteomic comparison of mouse peroxisomes from liver and kidney. Proteomics 2007, 7:1916-1928.
-
(2007)
Proteomics
, vol.7
, pp. 1916-1928
-
-
Mi, J.1
Kirchner, E.2
Cristobal, S.3
-
7
-
-
84874531370
-
The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey
-
Gronemeyer T., Wiese S., Ofman R., Bunse C., Pawlas M., Hayen H., Eisenacher M., Stephan C., Meyer H.E., Waterham H.R., Erdmann R., Wanders R.J., Warscheid B. The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey. PLoS One 2013, 8.
-
(2013)
PLoS One
, vol.8
-
-
Gronemeyer, T.1
Wiese, S.2
Ofman, R.3
Bunse, C.4
Pawlas, M.5
Hayen, H.6
Eisenacher, M.7
Stephan, C.8
Meyer, H.E.9
Waterham, H.R.10
Erdmann, R.11
Wanders, R.J.12
Warscheid, B.13
-
8
-
-
84864029381
-
Genetics and molecular basis of human peroxisome biogenesis disorders
-
Waterham H.R., Ebberink M.S. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim. Biophys. Acta 2012, 1822:1430-1441.
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 1430-1441
-
-
Waterham, H.R.1
Ebberink, M.S.2
-
9
-
-
0025989425
-
Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review
-
Roels F., Espeel M., De Craemer D. Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review. J. Inherit. Metab. Dis. 1991, 14:853-875.
-
(1991)
J. Inherit. Metab. Dis.
, vol.14
, pp. 853-875
-
-
Roels, F.1
Espeel, M.2
De Craemer, D.3
-
10
-
-
84870473233
-
Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites
-
Wanders R.J., Ferdinandusse S. Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites. Curr. Drug Metab. 2012, 13:1401-1411.
-
(2012)
Curr. Drug Metab.
, vol.13
, pp. 1401-1411
-
-
Wanders, R.J.1
Ferdinandusse, S.2
-
11
-
-
33845336846
-
Peroxisome biogenesis disorders
-
Steinberg S.J., Dodt G., Raymond G.V., Braverman N.E., Moser A.B., Moser H.W. Peroxisome biogenesis disorders. Biochim. Biophys. Acta 2006, 1763:1733-1748.
-
(2006)
Biochim. Biophys. Acta
, vol.1763
, pp. 1733-1748
-
-
Steinberg, S.J.1
Dodt, G.2
Raymond, G.V.3
Braverman, N.E.4
Moser, A.B.5
Moser, H.W.6
-
12
-
-
0016232656
-
Increased concentration of phytanic acid in plasma and liver of an infant with cerebral damage of unknown etiology (author's transl)
-
Kahlke W., Goerlich R., Feist D. Increased concentration of phytanic acid in plasma and liver of an infant with cerebral damage of unknown etiology (author's transl). Klin. Wochenschr. 1974, 52:651-653.
-
(1974)
Klin. Wochenschr.
, vol.52
, pp. 651-653
-
-
Kahlke, W.1
Goerlich, R.2
Feist, D.3
-
13
-
-
0021713540
-
Infantile refsum's disease (phytanic acid storage disease): a variant of zellweger's syndrome?
-
Poulos A., Sharp P., Whiting M. Infantile refsum's disease (phytanic acid storage disease): a variant of zellweger's syndrome?. Clin. Genet. 1984, 26:579-586.
-
(1984)
Clin. Genet.
, vol.26
, pp. 579-586
-
-
Poulos, A.1
Sharp, P.2
Whiting, M.3
-
14
-
-
0022654796
-
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children
-
Budden S.S., Kennaway N.G., Buist N.R., Poulos A., Weleber R.G. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. J. Pediatr. 1986, 108:33-39.
-
(1986)
J. Pediatr.
, vol.108
, pp. 33-39
-
-
Budden, S.S.1
Kennaway, N.G.2
Buist, N.R.3
Poulos, A.4
Weleber, R.G.5
-
15
-
-
84975795463
-
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood
-
Berendse K., Engelen M., Ferdinandusse S., Majoie C.B., Waterham H.R., Vaz F.M., Koelman J.H., Barth P.G., Wanders R.J., Poll-The B.T. Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. J. Inherit. Metab. Dis. 2015.
-
(2015)
J. Inherit. Metab. Dis.
-
-
Berendse, K.1
Engelen, M.2
Ferdinandusse, S.3
Majoie, C.B.4
Waterham, H.R.5
Vaz, F.M.6
Koelman, J.H.7
Barth, P.G.8
Wanders, R.J.9
Poll-The, B.T.10
-
16
-
-
0034799180
-
Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse)
-
Baumgart E., Vanhorebeek I., Grabenbauer M., Borgers M., Declercq P.E., Fahimi H.D., Baes M. Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). Am J Pathol 2001, 159:1477-1494.
-
(2001)
Am J Pathol
, vol.159
, pp. 1477-1494
-
-
Baumgart, E.1
Vanhorebeek, I.2
Grabenbauer, M.3
Borgers, M.4
Declercq, P.E.5
Fahimi, H.D.6
Baes, M.7
-
17
-
-
34247354077
-
Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice
-
Keane M.H., Overmars H., Wikander T.M., Ferdinandusse S., Duran M., Wanders R.J., Faust P.L. Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice. Hepatology 2007, 45:982-997.
-
(2007)
Hepatology
, vol.45
, pp. 982-997
-
-
Keane, M.H.1
Overmars, H.2
Wikander, T.M.3
Ferdinandusse, S.4
Duran, M.5
Wanders, R.J.6
Faust, P.L.7
-
18
-
-
0042632799
-
Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype
-
Maxwell M., Bjorkman J., Nguyen T., Sharp P., Finnie J., Paterson C., Tonks I., Paton B.C., Kay G.F., Crane D.I. Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype. Mol. Cell. Biol. 2003, 23:5947-5957.
-
(2003)
Mol. Cell. Biol.
, vol.23
, pp. 5947-5957
-
-
Maxwell, M.1
Bjorkman, J.2
Nguyen, T.3
Sharp, P.4
Finnie, J.5
Paterson, C.6
Tonks, I.7
Paton, B.C.8
Kay, G.F.9
Crane, D.I.10
-
19
-
-
33846166061
-
Neocortical and cerebellar developmental abnormalities in conditions of selective elimination of peroxisomes from brain or from liver
-
Krysko O., Hulshagen L., Janssen A., Schutz G., Klein R., De Bruycker M., Espeel M., Gressens P., Baes M. Neocortical and cerebellar developmental abnormalities in conditions of selective elimination of peroxisomes from brain or from liver. J. Neurosci. Res. 2007, 85:58-72.
-
(2007)
J. Neurosci. Res.
, vol.85
, pp. 58-72
-
-
Krysko, O.1
Hulshagen, L.2
Janssen, A.3
Schutz, G.4
Klein, R.5
De Bruycker, M.6
Espeel, M.7
Gressens, P.8
Baes, M.9
-
20
-
-
84897576762
-
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder
-
Hiebler S., Masuda T., Hacia J.G., Moser A.B., Faust P.L., Liu A., Chowdhury N., Huang N., Lauer A., Bennett J., Watkins P.A., Zack D.J., Braverman N.E., Raymond G.V., Steinberg S.J. The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Mol. Genet. Metab. 2014, 111:522-532.
-
(2014)
Mol. Genet. Metab.
, vol.111
, pp. 522-532
-
-
Hiebler, S.1
Masuda, T.2
Hacia, J.G.3
Moser, A.B.4
Faust, P.L.5
Liu, A.6
Chowdhury, N.7
Huang, N.8
Lauer, A.9
Bennett, J.10
Watkins, P.A.11
Zack, D.J.12
Braverman, N.E.13
Raymond, G.V.14
Steinberg, S.J.15
-
21
-
-
16244397057
-
Absence of peroxisomes in hepatocytes causes mitochondrial and ER abnormalities
-
Dirkx R., Vanhorebeek I., Martens K., Schad A., Grabenbauer M., Fahimi D., Declercq P., Van Veldhoven P.P., Baes M. Absence of peroxisomes in hepatocytes causes mitochondrial and ER abnormalities. Hepatology 2005, 41:868-878.
-
(2005)
Hepatology
, vol.41
, pp. 868-878
-
-
Dirkx, R.1
Vanhorebeek, I.2
Martens, K.3
Schad, A.4
Grabenbauer, M.5
Fahimi, D.6
Declercq, P.7
Van Veldhoven, P.P.8
Baes, M.9
-
22
-
-
0001687866
-
The peroxisome biogenesis disorders
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, D. Valle, W.S. Sly (Eds.)
-
Gould S.J., Raymond G.V., Valle D. The peroxisome biogenesis disorders. The Metabolic and Molecular Bases of Inherited Disease 2001, 8:3181-3217. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, D. Valle, W.S. Sly (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.8
, pp. 3181-3217
-
-
Gould, S.J.1
Raymond, G.V.2
Valle, D.3
-
23
-
-
10744225661
-
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata
-
Brites P., Motley A.M., Gressens P., Mooyer P.A., Ploegaert I., Everts V., Evrard P., Carmeliet P., Dewerchin M., Schoonjans L., Duran M., Waterham H.R., Wanders R.J., Baes M. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Hum. Mol. Genet. 2003, 12:2255-2267.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2255-2267
-
-
Brites, P.1
Motley, A.M.2
Gressens, P.3
Mooyer, P.A.4
Ploegaert, I.5
Everts, V.6
Evrard, P.7
Carmeliet, P.8
Dewerchin, M.9
Schoonjans, L.10
Duran, M.11
Waterham, H.R.12
Wanders, R.J.13
Baes, M.14
-
24
-
-
77649341208
-
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton
-
Braverman N., Zhang R., Chen L., Nimmo G., Scheper S., Tran T., Chaudhury R., Moser A., Steinberg S. A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. Mol. Genet. Metab. 2010, 99:408-416.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 408-416
-
-
Braverman, N.1
Zhang, R.2
Chen, L.3
Nimmo, G.4
Scheper, S.5
Tran, T.6
Chaudhury, R.7
Moser, A.8
Steinberg, S.9
-
25
-
-
84864035725
-
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11beta gene
-
Ebberink M.S., Koster J., Visser G., Spronsen F., Stolte-Dijkstra I., Smit G.P., Fock J.M., Kemp S., Wanders R.J., Waterham H.R. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11beta gene. J. Med. Genet. 2012, 49:307-313.
-
(2012)
J. Med. Genet.
, vol.49
, pp. 307-313
-
-
Ebberink, M.S.1
Koster, J.2
Visser, G.3
Spronsen, F.4
Stolte-Dijkstra, I.5
Smit, G.P.6
Fock, J.M.7
Kemp, S.8
Wanders, R.J.9
Waterham, H.R.10
-
26
-
-
0036261777
-
PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function
-
Li X., Baumgart E., Morrell J.C., Jimenez-Sanchez G., Valle D., Gould S.J. PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. Mol. Cell. Biol. 2002, 22:4358-4365.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 4358-4365
-
-
Li, X.1
Baumgart, E.2
Morrell, J.C.3
Jimenez-Sanchez, G.4
Valle, D.5
Gould, S.J.6
-
27
-
-
84872396492
-
Pex11alpha deficiency impairs peroxisome elongation and division and contributes to nonalcoholic fatty liver in mice
-
Weng H., Ji X., Naito Y., Endo K., Ma X., Takahashi R., Shen C., Hirokawa G., Fukushima Y., Iwai N. Pex11alpha deficiency impairs peroxisome elongation and division and contributes to nonalcoholic fatty liver in mice. Am. J. Physiol. Endocrinol. Metab. 2013, 304:E187-E196.
-
(2013)
Am. J. Physiol. Endocrinol. Metab.
, vol.304
, pp. E187-E196
-
-
Weng, H.1
Ji, X.2
Naito, Y.3
Endo, K.4
Ma, X.5
Takahashi, R.6
Shen, C.7
Hirokawa, G.8
Fukushima, Y.9
Iwai, N.10
-
28
-
-
84864052256
-
Peroxisomal ABC transporters: structure, function and role in disease
-
Morita M., Imanaka T. Peroxisomal ABC transporters: structure, function and role in disease. Biochim. Biophys. Acta 2012, 1822:1387-1396.
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 1387-1396
-
-
Morita, M.1
Imanaka, T.2
-
29
-
-
84872861231
-
Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids
-
De Marcos Lousa C., van Roermund C.W., Postis V.L., Dietrich D., Kerr I.D., Wanders R.J., Baldwin S.A., Baker A., Theodoulou F.L. Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:1279-1284.
-
(2013)
Proc. Natl. Acad. Sci. U. S. A.
, vol.110
, pp. 1279-1284
-
-
De Marcos Lousa, C.1
van Roermund, C.W.2
Postis, V.L.3
Dietrich, D.4
Kerr, I.D.5
Wanders, R.J.6
Baldwin, S.A.7
Baker, A.8
Theodoulou, F.L.9
-
30
-
-
33846949331
-
Novel peroxisomal protease Tysnd1 processes PTS1- and PTS2-containing enzymes involved in beta-oxidation of fatty acids
-
Kurochkin I.V., Mizuno Y., Konagaya A., Sakaki Y., Schonbach C., Okazaki Y. Novel peroxisomal protease Tysnd1 processes PTS1- and PTS2-containing enzymes involved in beta-oxidation of fatty acids. EMBO J. 2007, 26:835-845.
-
(2007)
EMBO J.
, vol.26
, pp. 835-845
-
-
Kurochkin, I.V.1
Mizuno, Y.2
Konagaya, A.3
Sakaki, Y.4
Schonbach, C.5
Okazaki, Y.6
-
31
-
-
29944445799
-
Clinical and biochemical spectrum of D-bifunctional protein deficiency
-
Ferdinandusse S., Denis S., Mooyer P.A., Dekker C., Duran M., Soorani-Lunsing R.J., Boltshauser E., Macaya A., Gartner J., Majoie C.B., Barth P.G., Wanders R.J., Poll-The B.T. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann. Neurol. 2006, 59:92-104.
-
(2006)
Ann. Neurol.
, vol.59
, pp. 92-104
-
-
Ferdinandusse, S.1
Denis, S.2
Mooyer, P.A.3
Dekker, C.4
Duran, M.5
Soorani-Lunsing, R.J.6
Boltshauser, E.7
Macaya, A.8
Gartner, J.9
Majoie, C.B.10
Barth, P.G.11
Wanders, R.J.12
Poll-The, B.T.13
-
32
-
-
34848897852
-
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency
-
Ferdinandusse S., Denis S., Hogenhout E.M., Koster J., van Roermund C.W., I.J.L., Moser A.B., Wanders R.J., Waterham H.R. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum. Mutat. 2007, 28:904-912.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 904-912
-
-
Ferdinandusse, S.1
Denis, S.2
Hogenhout, E.M.3
Koster, J.4
van Roermund, C.W.5
Moser, A.B.6
Wanders, R.J.7
Waterham, H.R.8
-
33
-
-
84898715697
-
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing
-
Lines M.A., Jobling R., Brady L., Marshall C.R., Scherer S.W., Rodriguez A.R., Lee L., Lang A.E., Mestre T.A., Wanders R.J., Ferdinandusse S., Tarnopolsky M.A. Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. Neurology 2014, 82:963-968.
-
(2014)
Neurology
, vol.82
, pp. 963-968
-
-
Lines, M.A.1
Jobling, R.2
Brady, L.3
Marshall, C.R.4
Scherer, S.W.5
Rodriguez, A.R.6
Lee, L.7
Lang, A.E.8
Mestre, T.A.9
Wanders, R.J.10
Ferdinandusse, S.11
Tarnopolsky, M.A.12
-
34
-
-
77649154711
-
Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
-
Ferdinandusse S., Barker S., Lachlan K., Duran M., Waterham H.R., Wanders R.J., Hammans S. Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. J. Neurol. Neurosurg. Psychiatry 2010, 81:310-312.
-
(2010)
J. Neurol. Neurosurg. Psychiatry
, vol.81
, pp. 310-312
-
-
Ferdinandusse, S.1
Barker, S.2
Lachlan, K.3
Duran, M.4
Waterham, H.R.5
Wanders, R.J.6
Hammans, S.7
-
35
-
-
84922465188
-
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
-
Ferdinandusse S., Jimenez-Sanchez G., Koster J., Denis S., Van Roermund C.W., Silva-Zolezzi I., Moser A.B., Visser W.F., Gulluoglu M., Durmaz O., Demirkol M., Waterham H.R., Gokcay G., Wanders R.J., Valle D. A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum. Mol. Genet. 2015, 24:361-370.
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 361-370
-
-
Ferdinandusse, S.1
Jimenez-Sanchez, G.2
Koster, J.3
Denis, S.4
Van Roermund, C.W.5
Silva-Zolezzi, I.6
Moser, A.B.7
Visser, W.F.8
Gulluoglu, M.9
Durmaz, O.10
Demirkol, M.11
Waterham, H.R.12
Gokcay, G.13
Wanders, R.J.14
Valle, D.15
-
36
-
-
0037219301
-
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy
-
Setchell K.D.R., Heubi J.E., Bove K.E., O'Connell N.C., Brewsaugh T., Steinberg S.J., Moser A., Squires R.H. Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology 2003, 124:217-232.
-
(2003)
Gastroenterology
, vol.124
, pp. 217-232
-
-
Setchell, K.D.R.1
Heubi, J.E.2
Bove, K.E.3
O'Connell, N.C.4
Brewsaugh, T.5
Steinberg, S.J.6
Moser, A.7
Squires, R.H.8
-
37
-
-
84897956089
-
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency
-
Smith E.H., Gavrilov D.K., Oglesbee D., Freeman W.D., Vavra M.W., Matern D., Tortorelli S. An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. J. Inherit. Metab. Dis. 2010, 33(Suppl. 3):S349-S353.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, pp. S349-S353
-
-
Smith, E.H.1
Gavrilov, D.K.2
Oglesbee, D.3
Freeman, W.D.4
Vavra, M.W.5
Matern, D.6
Tortorelli, S.7
-
38
-
-
0037994064
-
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
-
Carlton V.E., Harris B.Z., Puffenberger E.G., Batta A.K., Knisely A.S., Robinson D.L., Strauss K.A., Shneider B.L., Lim W.A., Salen G., Morton D.H., Bull L.N. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat. Genet. 2003, 34:91-96.
-
(2003)
Nat. Genet.
, vol.34
, pp. 91-96
-
-
Carlton, V.E.1
Harris, B.Z.2
Puffenberger, E.G.3
Batta, A.K.4
Knisely, A.S.5
Robinson, D.L.6
Strauss, K.A.7
Shneider, B.L.8
Lim, W.A.9
Salen, G.10
Morton, D.H.11
Bull, L.N.12
-
39
-
-
84876496656
-
Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency
-
quiz e914-945
-
Setchell K.D., Heubi J.E., Shah S., Lavine J.E., Suskind D., Al-Edreesi M., Potter C., Russell D.W., O'Connell N.C., Wolfe B., Jha P., Zhang W., Bove K.E., Knisely A.S., Hofmann A.F., Rosenthal P., Bull L.N. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. Gastroenterology 2013, 144:945 e946-955 e946. quiz e914-945.
-
(2013)
Gastroenterology
, vol.144
, pp. 945 e946-955 e946
-
-
Setchell, K.D.1
Heubi, J.E.2
Shah, S.3
Lavine, J.E.4
Suskind, D.5
Al-Edreesi, M.6
Potter, C.7
Russell, D.W.8
O'Connell, N.C.9
Wolfe, B.10
Jha, P.11
Zhang, W.12
Bove, K.E.13
Knisely, A.S.14
Hofmann, A.F.15
Rosenthal, P.16
Bull, L.N.17
-
40
-
-
84864042465
-
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
-
Kemp S., Berger J., Aubourg P. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim. Biophys. Acta 2012, 1822:1465-1474.
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 1465-1474
-
-
Kemp, S.1
Berger, J.2
Aubourg, P.3
-
41
-
-
33646885229
-
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy
-
Ferdinandusse S., Kostopoulos P., Denis S., Rusch H., Overmars H., Dillmann U., Reith W., Haas D., Wanders R.J., Duran M., Marziniak M. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am. J. Hum. Genet. 2006, 78:1046-1052.
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 1046-1052
-
-
Ferdinandusse, S.1
Kostopoulos, P.2
Denis, S.3
Rusch, H.4
Overmars, H.5
Dillmann, U.6
Reith, W.7
Haas, D.8
Wanders, R.J.9
Duran, M.10
Marziniak, M.11
-
42
-
-
84908255549
-
Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature
-
Calhoun A.R., Raymond G.V. Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature. Am J Med Genet A 2014, 164A:2613-2617.
-
(2014)
Am J Med Genet A
, vol.164A
, pp. 2613-2617
-
-
Calhoun, A.R.1
Raymond, G.V.2
-
43
-
-
18344362785
-
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders
-
Corzo D., Gibson W., Johnson K., Mitchell G., LePage G., Cox G.F., Casey R., Zeiss C., Tyson H., Cutting G.R., Raymond G.V., Smith K.D., Watkins P.A., Moser A.B., Moser H.W., Steinberg S.J. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am. J. Hum. Genet. 2002, 70:1520-1531.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1520-1531
-
-
Corzo, D.1
Gibson, W.2
Johnson, K.3
Mitchell, G.4
LePage, G.5
Cox, G.F.6
Casey, R.7
Zeiss, C.8
Tyson, H.9
Cutting, G.R.10
Raymond, G.V.11
Smith, K.D.12
Watkins, P.A.13
Moser, A.B.14
Moser, H.W.15
Steinberg, S.J.16
-
44
-
-
84878653340
-
Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case
-
Iwasa M., Yamagata T., Mizuguchi M., Itoh M., Matsumoto A., Hironaka M., Honda A., Momoi M.Y., Shimozawa N. Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case. Neuropathology 2013, 33:292-298.
-
(2013)
Neuropathology
, vol.33
, pp. 292-298
-
-
Iwasa, M.1
Yamagata, T.2
Mizuguchi, M.3
Itoh, M.4
Matsumoto, A.5
Hironaka, M.6
Honda, A.7
Momoi, M.Y.8
Shimozawa, N.9
-
45
-
-
84921435548
-
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1
-
van de Kamp J.M., Errami A., Howidi M., Anselm I., Winter S., Phalin-Roque J., Osaka H., van Dooren S.J., Mancini G.M., Steinberg S.J., Salomons G.S. Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. Clin. Genet. 2015, 87:141-147.
-
(2015)
Clin. Genet.
, vol.87
, pp. 141-147
-
-
van de Kamp, J.M.1
Errami, A.2
Howidi, M.3
Anselm, I.4
Winter, S.5
Phalin-Roque, J.6
Osaka, H.7
van Dooren, S.J.8
Mancini, G.M.9
Steinberg, S.J.10
Salomons, G.S.11
-
46
-
-
84892566155
-
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome
-
Klootwijk E.D., Reichold M., Helip-Wooley A., Tolaymat A., Broeker C., Robinette S.L., Reinders J., Peindl D., Renner K., Eberhart K., Assmann N., Oefner P.J., Dettmer K., Sterner C., Schroeder J., Zorger N., Witzgall R., Reinhold S.W., Stanescu H.C., Bockenhauer D., Jaureguiberry G., Courtneidge H., Hall A.M., Wijeyesekera A.D., Holmes E., Nicholson J.K., O'Brien K., Bernardini I., Krasnewich D.M., Arcos-Burgos M., Izumi Y., Nonoguchi H., Jia Y., Reddy J.K., Ilyas M., Unwin R.J., Gahl W.A., Warth R., Kleta R. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N. Engl. J. Med. 2014, 370:129-138.
-
(2014)
N. Engl. J. Med.
, vol.370
, pp. 129-138
-
-
Klootwijk, E.D.1
Reichold, M.2
Helip-Wooley, A.3
Tolaymat, A.4
Broeker, C.5
Robinette, S.L.6
Reinders, J.7
Peindl, D.8
Renner, K.9
Eberhart, K.10
Assmann, N.11
Oefner, P.J.12
Dettmer, K.13
Sterner, C.14
Schroeder, J.15
Zorger, N.16
Witzgall, R.17
Reinhold, S.W.18
Stanescu, H.C.19
Bockenhauer, D.20
Jaureguiberry, G.21
Courtneidge, H.22
Hall, A.M.23
Wijeyesekera, A.D.24
Holmes, E.25
Nicholson, J.K.26
O'Brien, K.27
Bernardini, I.28
Krasnewich, D.M.29
Arcos-Burgos, M.30
Izumi, Y.31
Nonoguchi, H.32
Jia, Y.33
Reddy, J.K.34
Ilyas, M.35
Unwin, R.J.36
Gahl, W.A.37
Warth, R.38
Kleta, R.39
more..
-
47
-
-
84864125549
-
The emerging role of acyl-CoA thioesterases and acyltransferases in regulating peroxisomal lipid metabolism
-
Hunt M.C., Siponen M.I., Alexson S.E. The emerging role of acyl-CoA thioesterases and acyltransferases in regulating peroxisomal lipid metabolism. Biochim. Biophys. Acta 2012, 1822:1397-1410.
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 1397-1410
-
-
Hunt, M.C.1
Siponen, M.I.2
Alexson, S.E.3
-
48
-
-
84864046565
-
Mouse models for peroxisome biogenesis defects and beta-oxidation enzyme deficiencies
-
Baes M., Van Veldhoven P.P. Mouse models for peroxisome biogenesis defects and beta-oxidation enzyme deficiencies. Biochim. Biophys. Acta 2012, 1822:1489-1500.
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 1489-1500
-
-
Baes, M.1
Van Veldhoven, P.P.2
-
49
-
-
84902338484
-
Role of AMACR (alpha-methylacyl-CoA racemase) and MFE-1 (peroxisomal multifunctional enzyme-1) in bile acid synthesis in mice
-
Autio K.J., Schmitz W., Nair R.R., Selkala E.M., Sormunen R.T., Miinalainen I.J., Crick P.J., Wang Y., Griffiths W.J., Reddy J.K., Baes M., Hiltunen J.K. Role of AMACR (alpha-methylacyl-CoA racemase) and MFE-1 (peroxisomal multifunctional enzyme-1) in bile acid synthesis in mice. Biochem. J. 2014, 461:125-135.
-
(2014)
Biochem. J.
, vol.461
, pp. 125-135
-
-
Autio, K.J.1
Schmitz, W.2
Nair, R.R.3
Selkala, E.M.4
Sormunen, R.T.5
Miinalainen, I.J.6
Crick, P.J.7
Wang, Y.8
Griffiths, W.J.9
Reddy, J.K.10
Baes, M.11
Hiltunen, J.K.12
-
50
-
-
84878490756
-
Metabolic adaptation allows Amacr-deficient mice to remain symptom-free despite low levels of mature bile acids
-
Selkala E.M., Kuusisto S.M., Salonurmi T., Savolainen M.J., Jauhiainen M., Pirila P.L., Kvist A.P., Conzelmann E., Schmitz W., Alexson S.E., Kotti T.J., Hiltunen J.K., Autio K.J. Metabolic adaptation allows Amacr-deficient mice to remain symptom-free despite low levels of mature bile acids. Biochim. Biophys. Acta 2013, 1831:1335-1343.
-
(2013)
Biochim. Biophys. Acta
, vol.1831
, pp. 1335-1343
-
-
Selkala, E.M.1
Kuusisto, S.M.2
Salonurmi, T.3
Savolainen, M.J.4
Jauhiainen, M.5
Pirila, P.L.6
Kvist, A.P.7
Conzelmann, E.8
Schmitz, W.9
Alexson, S.E.10
Kotti, T.J.11
Hiltunen, J.K.12
Autio, K.J.13
-
51
-
-
10144234128
-
Hepatocellular and hepatic peroxisomal alterations in mice with a disrupted peroxisomal fatty acyl-coenzyme A oxidase gene
-
Fan C.Y., Pan J., Chu R., Lee D., Kluckman K.D., Usuda N., Singh I., Yeldandi A.V., Rao M.S., Maeda N., Reddy J.K. Hepatocellular and hepatic peroxisomal alterations in mice with a disrupted peroxisomal fatty acyl-coenzyme A oxidase gene. J. Biol. Chem. 1996, 271:24698-24710.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 24698-24710
-
-
Fan, C.Y.1
Pan, J.2
Chu, R.3
Lee, D.4
Kluckman, K.D.5
Usuda, N.6
Singh, I.7
Yeldandi, A.V.8
Rao, M.S.9
Maeda, N.10
Reddy, J.K.11
-
52
-
-
0014028658
-
Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis
-
Eldjarn L., Try K., Stokke O., Munthe-Kaas A.W., Refsum S., Steinberg D., Avigan J., Mize C. Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet 1966, 1:691-693.
-
(1966)
Lancet
, vol.1
, pp. 691-693
-
-
Eldjarn, L.1
Try, K.2
Stokke, O.3
Munthe-Kaas, A.W.4
Refsum, S.5
Steinberg, D.6
Avigan, J.7
Mize, C.8
-
53
-
-
0021713540
-
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome
-
Poulos A., Sharp P., Whiting M. Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome. Clin. Genet. 1984, 26:579-586.
-
(1984)
Clin. Genet.
, vol.26
, pp. 579-586
-
-
Poulos, A.1
Sharp, P.2
Whiting, M.3
-
54
-
-
0001435689
-
[On the presence of 3,7,11,15-tetramethylhexadecanoic acid (phytanic acid) in the cholesterol esters and other lipoid fractions of the organs in a case of a disease of unknown origin (possibly heredopathia atactica polyneuritiformis, refsum's syndrome)]
-
Klenk E., Kahike W. [On the presence of 3,7,11,15-tetramethylhexadecanoic acid (phytanic acid) in the cholesterol esters and other lipoid fractions of the organs in a case of a disease of unknown origin (possibly heredopathia atactica polyneuritiformis, refsum's syndrome)]. Hoppe Seylers Z. Physiol. Chem. 1963, 333:133-139.
-
(1963)
Hoppe Seylers Z. Physiol. Chem.
, vol.333
, pp. 133-139
-
-
Klenk, E.1
Kahike, W.2
-
55
-
-
34250939292
-
Refsum's syndrome - lipoid chemical research in 9 cases
-
Kahlke W. Refsum's syndrome - lipoid chemical research in 9 cases. Klin. Wochenschr. 1964, 42:1011-1016.
-
(1964)
Klin. Wochenschr.
, vol.42
, pp. 1011-1016
-
-
Kahlke, W.1
-
56
-
-
0014447587
-
Phytanic acid in tissue lipids in refsum's disease
-
Skrbic T.R., Cumings J.N. Phytanic acid in tissue lipids in refsum's disease. Clin. Chim. Acta 1969, 23:17-21.
-
(1969)
Clin. Chim. Acta
, vol.23
, pp. 17-21
-
-
Skrbic, T.R.1
Cumings, J.N.2
-
57
-
-
0017805357
-
Clinicopathological study of Refsum's disease with particular reference to fatal complications
-
Allen I.V., Swallow M., Nevin N.C., McCormick D. Clinicopathological study of Refsum's disease with particular reference to fatal complications. J. Neurol. Neurosurg. Psychiatry 1978, 41:323-332.
-
(1978)
J. Neurol. Neurosurg. Psychiatry
, vol.41
, pp. 323-332
-
-
Allen, I.V.1
Swallow, M.2
Nevin, N.C.3
McCormick, D.4
-
59
-
-
0025008416
-
Heredopathia atactica polyneuritiformis (Refsum's disease)
-
Cervos-Navarro J. Heredopathia atactica polyneuritiformis (Refsum's disease). Histol. Histopathol. 1990, 5:439-450.
-
(1990)
Histol. Histopathol.
, vol.5
, pp. 439-450
-
-
Cervos-Navarro, J.1
-
60
-
-
56649124783
-
Ataxia with loss of purkinje cells in a mouse model for Refsum disease
-
Ferdinandusse S., Zomer A.W., Komen J.C., van den Brink C.E., Thanos M., Hamers F.P., Wanders R.J., van der Saag P.T., Poll-The B.T., Brites P. Ataxia with loss of purkinje cells in a mouse model for Refsum disease. Proc. Natl. Acad. Sci. U. S. A. 2008, 105:17712-17717.
-
(2008)
Proc. Natl. Acad. Sci. U. S. A.
, vol.105
, pp. 17712-17717
-
-
Ferdinandusse, S.1
Zomer, A.W.2
Komen, J.C.3
van den Brink, C.E.4
Thanos, M.5
Hamers, F.P.6
Wanders, R.J.7
van der Saag, P.T.8
Poll-The, B.T.9
Brites, P.10
-
61
-
-
0029860132
-
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings
-
Hebestreit H., Wanders R.J., Schutgens R.B., Espeel M., Kerckaert I., Roels F., Schmausser B., Schrod L., Marx A. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. Eur. J. Pediatr. 1996, 155:1035-1039.
-
(1996)
Eur. J. Pediatr.
, vol.155
, pp. 1035-1039
-
-
Hebestreit, H.1
Wanders, R.J.2
Schutgens, R.B.3
Espeel, M.4
Kerckaert, I.5
Roels, F.6
Schmausser, B.7
Schrod, L.8
Marx, A.9
-
62
-
-
79955164331
-
Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice
-
Liegel R., Chang B., Dubielzig R., Sidjanin D.J. Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice. Mol. Genet. Metab. 2011, 103:51-59.
-
(2011)
Mol. Genet. Metab.
, vol.103
, pp. 51-59
-
-
Liegel, R.1
Chang, B.2
Dubielzig, R.3
Sidjanin, D.J.4
-
63
-
-
84905675045
-
Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome
-
Liegel R.P., Ronchetti A., Sidjanin D.J. Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome. Mol. Genet. Metab. Rep. 2014, 1:299-311.
-
(2014)
Mol. Genet. Metab. Rep.
, vol.1
, pp. 299-311
-
-
Liegel, R.P.1
Ronchetti, A.2
Sidjanin, D.J.3
-
64
-
-
0042131525
-
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice
-
Rodemer C., Thai T.P., Brugger B., Kaercher T., Werner H., Nave K.A., Wieland F., Gorgas K., Just W.W. Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. Hum. Mol. Genet. 2003, 12:1881-1895.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1881-1895
-
-
Rodemer, C.1
Thai, T.P.2
Brugger, B.3
Kaercher, T.4
Werner, H.5
Nave, K.A.6
Wieland, F.7
Gorgas, K.8
Just, W.W.9
-
65
-
-
84955696047
-
Primary hyperoxaluria complicated with liver cirrhosis: a case report
-
Kogiso T., Tokushige K., Hashimoto E., Miyakata C., Taniai M., Torii N., Omori A., Kotera Y., Egawa H., Yamamoto M., Nagata M., Shiratori K. Primary hyperoxaluria complicated with liver cirrhosis: a case report. Hepatol. Res. 2015.
-
(2015)
Hepatol. Res.
-
-
Kogiso, T.1
Tokushige, K.2
Hashimoto, E.3
Miyakata, C.4
Taniai, M.5
Torii, N.6
Omori, A.7
Kotera, Y.8
Egawa, H.9
Yamamoto, M.10
Nagata, M.11
Shiratori, K.12
-
66
-
-
84864038743
-
Primary hyperoxalurias: disorders of glyoxylate detoxification
-
Salido E., Pey A.L., Rodriguez R., Lorenzo V. Primary hyperoxalurias: disorders of glyoxylate detoxification. Biochim. Biophys. Acta 2012, 1822:1453-1464.
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 1453-1464
-
-
Salido, E.1
Pey, A.L.2
Rodriguez, R.3
Lorenzo, V.4
-
67
-
-
84906101974
-
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
-
Frishberg Y., Zeharia A., Lyakhovetsky R., Bargal R., Belostotsky R. Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria. J. Med. Genet. 2014, 51:526-529.
-
(2014)
J. Med. Genet.
, vol.51
, pp. 526-529
-
-
Frishberg, Y.1
Zeharia, A.2
Lyakhovetsky, R.3
Bargal, R.4
Belostotsky, R.5
-
68
-
-
84940448832
-
Primary hyperoxalurias: diagnosis and treatment
-
Ben-Shalom E., Frishberg Y. Primary hyperoxalurias: diagnosis and treatment. Pediatr. Nephrol. 2015, 30:1781-1791.
-
(2015)
Pediatr. Nephrol.
, vol.30
, pp. 1781-1791
-
-
Ben-Shalom, E.1
Frishberg, Y.2
-
69
-
-
33745420271
-
Behavioural alterations in male mice lacking the gene for d-aspartate oxidase
-
Weil Z.M., Huang A.S., Beigneux A., Kim P.M., Molliver M.E., Blackshaw S., Young S.G., Nelson R.J., Snyder S.H. Behavioural alterations in male mice lacking the gene for d-aspartate oxidase. Behav. Brain Res. 2006, 171:295-302.
-
(2006)
Behav. Brain Res.
, vol.171
, pp. 295-302
-
-
Weil, Z.M.1
Huang, A.S.2
Beigneux, A.3
Kim, P.M.4
Molliver, M.E.5
Blackshaw, S.6
Young, S.G.7
Nelson, R.J.8
Snyder, S.H.9
-
70
-
-
33644824256
-
D-aspartate regulates melanocortin formation and function: behavioral alterations in d-aspartate oxidase-deficient mice
-
Huang A.S., Beigneux A., Weil Z.M., Kim P.M., Molliver M.E., Blackshaw S., Nelson R.J., Young S.G., Snyder S.H. d-aspartate regulates melanocortin formation and function: behavioral alterations in d-aspartate oxidase-deficient mice. J Neurosci 2006, 26:2814-2819.
-
(2006)
J Neurosci
, vol.26
, pp. 2814-2819
-
-
Huang, A.S.1
Beigneux, A.2
Weil, Z.M.3
Kim, P.M.4
Molliver, M.E.5
Blackshaw, S.6
Nelson, R.J.7
Young, S.G.8
Snyder, S.H.9
-
71
-
-
84874765513
-
Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility
-
Mizuno Y., Ninomiya Y., Nakachi Y., Iseki M., Iwasa H., Akita M., Tsukui T., Shimozawa N., Ito C., Toshimori K., Nishimukai M., Hara H., Maeba R., Okazaki T., Alodaib A.N., Al Amoudi M., Jacob M., Alkuraya F.S., Horai Y., Watanabe M., Motegi H., Wakana S., Noda T., Kurochkin I.V., Schonbach C., Okazaki Y. Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility. PLoS Genet. 2013, 9.
-
(2013)
PLoS Genet.
, vol.9
-
-
Mizuno, Y.1
Ninomiya, Y.2
Nakachi, Y.3
Iseki, M.4
Iwasa, H.5
Akita, M.6
Tsukui, T.7
Shimozawa, N.8
Ito, C.9
Toshimori, K.10
Nishimukai, M.11
Hara, H.12
Maeba, R.13
Okazaki, T.14
Alodaib, A.N.15
Al Amoudi, M.16
Jacob, M.17
Alkuraya, F.S.18
Horai, Y.19
Watanabe, M.20
Motegi, H.21
Wakana, S.22
Noda, T.23
Kurochkin, I.V.24
Schonbach, C.25
Okazaki, Y.26
more..
-
73
-
-
0020973652
-
Ultrastructure of the liver in th cerebrohepatorenal syndrome of Zellweger
-
Mooi W.J., Dingemans K.P., van den Bergh Weerman M.A., Jobsis A.C., Heymans H.S., Barth P.G. Ultrastructure of the liver in th cerebrohepatorenal syndrome of Zellweger. Ultrastruct. Pathol. 1983, 5:135-144.
-
(1983)
Ultrastruct. Pathol.
, vol.5
, pp. 135-144
-
-
Mooi, W.J.1
Dingemans, K.P.2
van den Bergh Weerman, M.A.3
Jobsis, A.C.4
Heymans, H.S.5
Barth, P.G.6
-
74
-
-
0018874460
-
New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers
-
Manz H.J., Schuelein M., McCullough D.C., Kishimoto Y., Eiben R.M. New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers. J. Neurol. Sci. 1980, 45:245-260.
-
(1980)
J. Neurol. Sci.
, vol.45
, pp. 245-260
-
-
Manz, H.J.1
Schuelein, M.2
McCullough, D.C.3
Kishimoto, Y.4
Eiben, R.M.5
-
75
-
-
0021871792
-
The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma
-
Aubourg P., Robain O., Rocchiccioli F., Dancea S., Scotto J. The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma. J. Neurol. Sci. 1985, 69:9-25.
-
(1985)
J. Neurol. Sci.
, vol.69
, pp. 9-25
-
-
Aubourg, P.1
Robain, O.2
Rocchiccioli, F.3
Dancea, S.4
Scotto, J.5
-
76
-
-
0015848845
-
Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome
-
Goldfischer S., Moore C.L., Johnson A.B., Spiro A.J., Valsamis M.P., Wisniewski H.K., Ritch R.H., Norton W.T., Rapin I., Gartner L.M. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 1973, 182:62-64.
-
(1973)
Science
, vol.182
, pp. 62-64
-
-
Goldfischer, S.1
Moore, C.L.2
Johnson, A.B.3
Spiro, A.J.4
Valsamis, M.P.5
Wisniewski, H.K.6
Ritch, R.H.7
Norton, W.T.8
Rapin, I.9
Gartner, L.M.10
-
77
-
-
0019168913
-
Liver in the cerebro-hepato-renal syndrome: defective bile acid synthesis and abnormal mitochondria
-
Mathis R.K., Watkins J.B., Szczepanik-Van Leeuwen P., Lott I.T. Liver in the cerebro-hepato-renal syndrome: defective bile acid synthesis and abnormal mitochondria. Gastroenterology 1980, 79:1311-1317.
-
(1980)
Gastroenterology
, vol.79
, pp. 1311-1317
-
-
Mathis, R.K.1
Watkins, J.B.2
Szczepanik-Van Leeuwen, P.3
Lott, I.T.4
-
78
-
-
0022412223
-
Zellweger syndrome : biochemical and morphological studies on two patients treated with clofibrate
-
Lazarow P.B., Black V., Shio H., Fujiki Y., Hajra A.K., Datta N.S., Bangaru B.S., Dancis J. Zellweger syndrome : biochemical and morphological studies on two patients treated with clofibrate. Pediatr. Res. 1985, 19:1356-1364.
-
(1985)
Pediatr. Res.
, vol.19
, pp. 1356-1364
-
-
Lazarow, P.B.1
Black, V.2
Shio, H.3
Fujiki, Y.4
Hajra, A.K.5
Datta, N.S.6
Bangaru, B.S.7
Dancis, J.8
-
79
-
-
0015843704
-
Peroxisomal abnormalities in metabolic diseases
-
Goldfischer S., Johnson A.B., Essner E., Moore C., Ritch R.H. Peroxisomal abnormalities in metabolic diseases. J. Histochem. Cytochem. 1973, 21:972-977.
-
(1973)
J. Histochem. Cytochem.
, vol.21
, pp. 972-977
-
-
Goldfischer, S.1
Johnson, A.B.2
Essner, E.3
Moore, C.4
Ritch, R.H.5
-
80
-
-
65449182422
-
Peroxisome deficiency causes a complex phenotype because of hepatic SREBP/Insig dysregulation associated with endoplasmic reticulum stress
-
Kovacs W.J., Tape K.N., Shackelford J.E., Wikander T.M., Richards M.J., Fliesler S.J., Krisans S.K., Faust P.L. Peroxisome deficiency causes a complex phenotype because of hepatic SREBP/Insig dysregulation associated with endoplasmic reticulum stress. J. Biol. Chem. 2009, 284:7232-7245.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 7232-7245
-
-
Kovacs, W.J.1
Tape, K.N.2
Shackelford, J.E.3
Wikander, T.M.4
Richards, M.J.5
Fliesler, S.J.6
Krisans, S.K.7
Faust, P.L.8
-
81
-
-
82755183520
-
Carbohydrate metabolism is perturbed in peroxisome-deficient hepatocytes due to mitochondrial dysfunction, AMP-activated protein kinase (AMPK) activation, and peroxisome proliferator-activated receptor gamma coactivator 1alpha (PGC-1alpha) suppression
-
Peeters A., Fraisl P., van den Berg S., Ver Loren van Themaat E., Van Kampen A., Rider M.H., Takemori H., van Dijk K.W., Van Veldhoven P.P., Carmeliet P., Baes M. Carbohydrate metabolism is perturbed in peroxisome-deficient hepatocytes due to mitochondrial dysfunction, AMP-activated protein kinase (AMPK) activation, and peroxisome proliferator-activated receptor gamma coactivator 1alpha (PGC-1alpha) suppression. J. Biol. Chem. 2011, 286:42162-42179.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 42162-42179
-
-
Peeters, A.1
Fraisl, P.2
van den Berg, S.3
Ver Loren van Themaat, E.4
Van Kampen, A.5
Rider, M.H.6
Takemori, H.7
van Dijk, K.W.8
Van Veldhoven, P.P.9
Carmeliet, P.10
Baes, M.11
-
82
-
-
84859299139
-
Peroxisome deficiency-induced ER stress and SREBP-2 pathway activation in the liver of newborn PEX2 knock-out mice
-
Kovacs W.J., Charles K.N., Walter K.M., Shackelford J.E., Wikander T.M., Richards M.J., Fliesler S.J., Krisans S.K., Faust P.L. Peroxisome deficiency-induced ER stress and SREBP-2 pathway activation in the liver of newborn PEX2 knock-out mice. Biochim. Biophys. Acta 2012, 1821:895-907.
-
(2012)
Biochim. Biophys. Acta
, vol.1821
, pp. 895-907
-
-
Kovacs, W.J.1
Charles, K.N.2
Walter, K.M.3
Shackelford, J.E.4
Wikander, T.M.5
Richards, M.J.6
Fliesler, S.J.7
Krisans, S.K.8
Faust, P.L.9
-
83
-
-
84913568859
-
Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1alpha independent proliferation
-
Peeters A., Shinde A.B., Dirkx R., Smet J., De Bock K., Espeel M., Vanhorebeek I., Vanlander A., Van Coster R., Carmeliet P., Fransen M., Van Veldhoven P.P., Baes M. Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1alpha independent proliferation. Biochim. Biophys. Acta 2015, 1853:285-298.
-
(2015)
Biochim. Biophys. Acta
, vol.1853
, pp. 285-298
-
-
Peeters, A.1
Shinde, A.B.2
Dirkx, R.3
Smet, J.4
De Bock, K.5
Espeel, M.6
Vanhorebeek, I.7
Vanlander, A.8
Van Coster, R.9
Carmeliet, P.10
Fransen, M.11
Van Veldhoven, P.P.12
Baes, M.13
-
84
-
-
10744224980
-
Overexpression of peroxisome proliferator-activated receptor-alpha (PPARalpha)-regulated genes in liver in the absence of peroxisome proliferation in mice deficient in both L- and D-forms of enoyl-CoA hydratase/dehydrogenase enzymes of peroxisomal beta-oxidation system
-
Jia Y., Qi C., Zhang Z., Hashimoto T., Rao M.S., Huyghe S., Suzuki Y., Van Veldhoven P.P., Baes M., Reddy J.K. Overexpression of peroxisome proliferator-activated receptor-alpha (PPARalpha)-regulated genes in liver in the absence of peroxisome proliferation in mice deficient in both L- and D-forms of enoyl-CoA hydratase/dehydrogenase enzymes of peroxisomal beta-oxidation system. J. Biol. Chem. 2003, 278:47232-47239.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 47232-47239
-
-
Jia, Y.1
Qi, C.2
Zhang, Z.3
Hashimoto, T.4
Rao, M.S.5
Huyghe, S.6
Suzuki, Y.7
Van Veldhoven, P.P.8
Baes, M.9
Reddy, J.K.10
-
85
-
-
0033516569
-
Peroxisomal and mitochondrial fatty acid beta-oxidation in mice nullizygous for both peroxisome proliferator-activated receptor alpha and peroxisomal fatty acyl-CoA oxidase. Genotype correlation with fatty liver phenotype
-
Hashimoto T., Fujita T., Usuda N., Cook W., Qi C., Peters J.M., Gonzalez F.J., Yeldandi A.V., Rao M.S., Reddy J.K. Peroxisomal and mitochondrial fatty acid beta-oxidation in mice nullizygous for both peroxisome proliferator-activated receptor alpha and peroxisomal fatty acyl-CoA oxidase. Genotype correlation with fatty liver phenotype. J. Biol. Chem. 1999, 274:19228-19236.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 19228-19236
-
-
Hashimoto, T.1
Fujita, T.2
Usuda, N.3
Cook, W.4
Qi, C.5
Peters, J.M.6
Gonzalez, F.J.7
Yeldandi, A.V.8
Rao, M.S.9
Reddy, J.K.10
-
86
-
-
80052459616
-
Progressive endoplasmic reticulum stress contributes to hepatocarcinogenesis in fatty acyl-CoA oxidase 1-deficient mice
-
Huang J., Viswakarma N., Yu S., Jia Y., Bai L., Vluggens A., Cherkaoui-Malki M., Khan M., Singh I., Yang G., Rao M.S., Borensztajn J., Reddy J.K. Progressive endoplasmic reticulum stress contributes to hepatocarcinogenesis in fatty acyl-CoA oxidase 1-deficient mice. Am J Pathol 2011, 179:703-713.
-
(2011)
Am J Pathol
, vol.179
, pp. 703-713
-
-
Huang, J.1
Viswakarma, N.2
Yu, S.3
Jia, Y.4
Bai, L.5
Vluggens, A.6
Cherkaoui-Malki, M.7
Khan, M.8
Singh, I.9
Yang, G.10
Rao, M.S.11
Borensztajn, J.12
Reddy, J.K.13
-
87
-
-
14444273907
-
Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function
-
Seedorf U., Raabe M., Ellinghaus P., Kannenberg F., Fobker M., Engel T., Denis S., Wouters F., Wirtz K.W., Wanders R.J., Maeda N., Assmann G. Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function. Genes Dev. 1998, 12:1189-1201.
-
(1998)
Genes Dev.
, vol.12
, pp. 1189-1201
-
-
Seedorf, U.1
Raabe, M.2
Ellinghaus, P.3
Kannenberg, F.4
Fobker, M.5
Engel, T.6
Denis, S.7
Wouters, F.8
Wirtz, K.W.9
Wanders, R.J.10
Maeda, N.11
Assmann, G.12
-
88
-
-
2442529920
-
A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids
-
Savolainen K., Kotti T.J., Schmitz W., Savolainen T.I., Sormunen R.T., Ilves M., Vainio S.J., Conzelmann E., Hiltunen J.K. A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids. Hum. Mol. Genet. 2004, 13:955-965.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 955-965
-
-
Savolainen, K.1
Kotti, T.J.2
Schmitz, W.3
Savolainen, T.I.4
Sormunen, R.T.5
Ilves, M.6
Vainio, S.J.7
Conzelmann, E.8
Hiltunen, J.K.9
-
89
-
-
0033613869
-
Phytanic acid activates the peroxisome proliferator-activated receptor alpha (PPARalpha) in sterol carrier protein 2-/sterol carrier protein x-deficient mice
-
Ellinghaus P., Wolfrum C., Assmann G., Spener F., Seedorf U. Phytanic acid activates the peroxisome proliferator-activated receptor alpha (PPARalpha) in sterol carrier protein 2-/sterol carrier protein x-deficient mice. J. Biol. Chem. 1999, 274:2766-2772.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 2766-2772
-
-
Ellinghaus, P.1
Wolfrum, C.2
Assmann, G.3
Spener, F.4
Seedorf, U.5
-
90
-
-
33947331700
-
Effect of SCP-x gene ablation on branched-chain fatty acid metabolism
-
Atshaves B.P., McIntosh A.L., Landrock D., Payne H.R., Mackie J.T., Maeda N., Ball J., Schroeder F., Kier A.B. Effect of SCP-x gene ablation on branched-chain fatty acid metabolism. Am. J. Physiol. Gastrointest. Liver Physiol. 2007, 292:G939-G951.
-
(2007)
Am. J. Physiol. Gastrointest. Liver Physiol.
, vol.292
, pp. G939-G951
-
-
Atshaves, B.P.1
McIntosh, A.L.2
Landrock, D.3
Payne, H.R.4
Mackie, J.T.5
Maeda, N.6
Ball, J.7
Schroeder, F.8
Kier, A.B.9
-
91
-
-
33847741406
-
Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport
-
Pellicoro A., van den Heuvel F.A., Geuken M., Moshage H., Jansen P.L., Faber K.N. Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport. Hepatology 2007, 45:340-348.
-
(2007)
Hepatology
, vol.45
, pp. 340-348
-
-
Pellicoro, A.1
van den Heuvel, F.A.2
Geuken, M.3
Moshage, H.4
Jansen, P.L.5
Faber, K.N.6
-
92
-
-
0037790917
-
The enzymes, regulation, and genetics of bile acid synthesis
-
Russell D.W. The enzymes, regulation, and genetics of bile acid synthesis. Annu. Rev. Biochem. 2003, 72:137-174.
-
(2003)
Annu. Rev. Biochem.
, vol.72
, pp. 137-174
-
-
Russell, D.W.1
-
93
-
-
0037025401
-
Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling
-
Mihalik S.J., Steinberg S.J., Pei Z., Park J., Kim D.G., Heinzer A.K., Dacremont G., Wanders R.J., Cuebas D.A., Smith K.D., Watkins P.A. Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling. J. Biol. Chem. 2002, 277:24771-24779.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 24771-24779
-
-
Mihalik, S.J.1
Steinberg, S.J.2
Pei, Z.3
Park, J.4
Kim, D.G.5
Heinzer, A.K.6
Dacremont, G.7
Wanders, R.J.8
Cuebas, D.A.9
Smith, K.D.10
Watkins, P.A.11
-
94
-
-
0026668028
-
Substrate specificities of rat liver peroxisomal acyl-CoA oxidases: palmitoyl-CoA oxidase (inducible acyl-CoA oxidase), pristanoyl-CoA oxidase (non-inducible acyl-CoA oxidase), and trihydroxycoprostanoyl-CoA oxidase
-
Van Veldhoven P.P., Vanhove G., Assselberghs S., Eyssen H.J., Mannaerts G.P. Substrate specificities of rat liver peroxisomal acyl-CoA oxidases: palmitoyl-CoA oxidase (inducible acyl-CoA oxidase), pristanoyl-CoA oxidase (non-inducible acyl-CoA oxidase), and trihydroxycoprostanoyl-CoA oxidase. J. Biol. Chem. 1992, 267:20065-20074.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 20065-20074
-
-
Van Veldhoven, P.P.1
Vanhove, G.2
Assselberghs, S.3
Eyssen, H.J.4
Mannaerts, G.P.5
-
95
-
-
0027159784
-
The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney
-
Vanhove G.F., Van Veldhoven P.P., Fransen M., Denis S., Eyssen H.J., Wanders R.J., Mannaerts G.P. The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney. J. Biol. Chem. 1993, 268:10335-10344.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 10335-10344
-
-
Vanhove, G.F.1
Van Veldhoven, P.P.2
Fransen, M.3
Denis, S.4
Eyssen, H.J.5
Wanders, R.J.6
Mannaerts, G.P.7
-
96
-
-
0034717058
-
Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids
-
Baes M., Huyghe S., Carmeliet P., Declercq P.E., Collen D., Mannaerts G.P., Van Veldhoven P.P. Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids. J. Biol. Chem. 2000, 275:16329-16336.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 16329-16336
-
-
Baes, M.1
Huyghe, S.2
Carmeliet, P.3
Declercq, P.E.4
Collen, D.5
Mannaerts, G.P.6
Van Veldhoven, P.P.7
-
97
-
-
0033544852
-
Aberrant oxidation of the cholesterol side chain in bile acid synthesis of sterol carrier protein-2/sterol carrier protein-x knockout mice
-
Kannenberg F., Ellinghaus P., Assmann G., Seedorf U. Aberrant oxidation of the cholesterol side chain in bile acid synthesis of sterol carrier protein-2/sterol carrier protein-x knockout mice. J. Biol. Chem. 1999, 274:35455-35460.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 35455-35460
-
-
Kannenberg, F.1
Ellinghaus, P.2
Assmann, G.3
Seedorf, U.4
-
98
-
-
83255185056
-
Effect of bile duct ligation on bile acid composition in mouse serum and liver
-
Zhang Y., Hong J.Y., Rockwell C.E., Copple B.L., Jaeschke H., Klaassen C.D. Effect of bile duct ligation on bile acid composition in mouse serum and liver. Liver Int. 2012, 32:58-69.
-
(2012)
Liver Int.
, vol.32
, pp. 58-69
-
-
Zhang, Y.1
Hong, J.Y.2
Rockwell, C.E.3
Copple, B.L.4
Jaeschke, H.5
Klaassen, C.D.6
-
99
-
-
78650793157
-
Bile acids induce inflammatory genes in hepatocytes: a novel mechanism of inflammation during obstructive cholestasis
-
Allen K., Jaeschke H., Copple B.L. Bile acids induce inflammatory genes in hepatocytes: a novel mechanism of inflammation during obstructive cholestasis. Am. J. Pathol. 2011, 178:175-186.
-
(2011)
Am. J. Pathol.
, vol.178
, pp. 175-186
-
-
Allen, K.1
Jaeschke, H.2
Copple, B.L.3
-
100
-
-
0018728402
-
Micellar properties of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestan-26-oyl taurine and relationship to in vitro red cell disruption
-
Smith C.M., Williams G.C., Krivit W., White J.G., Hanson R.F. Micellar properties of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestan-26-oyl taurine and relationship to in vitro red cell disruption. J. Lab. Clin. Med. 1979, 94:624-632.
-
(1979)
J. Lab. Clin. Med.
, vol.94
, pp. 624-632
-
-
Smith, C.M.1
Williams, G.C.2
Krivit, W.3
White, J.G.4
Hanson, R.F.5
-
101
-
-
60649100200
-
Toxicity of peroxisomal C27-bile acid intermediates
-
Ferdinandusse S., Denis S., Dacremont G., Wanders R.J. Toxicity of peroxisomal C27-bile acid intermediates. Mol. Genet. Metab. 2009, 96:121-128.
-
(2009)
Mol. Genet. Metab.
, vol.96
, pp. 121-128
-
-
Ferdinandusse, S.1
Denis, S.2
Dacremont, G.3
Wanders, R.J.4
-
102
-
-
0033125692
-
The anion-carrier mediated uncoupling effect of dicarboxylic fatty acids in liver mitochondria depends on the position of the second carboxyl group
-
Markova O.V., Bondarenko D.I., Samartsev V.N. The anion-carrier mediated uncoupling effect of dicarboxylic fatty acids in liver mitochondria depends on the position of the second carboxyl group. Biochemistry (Mosc) 1999, 64:565-570.
-
(1999)
Biochemistry (Mosc)
, vol.64
, pp. 565-570
-
-
Markova, O.V.1
Bondarenko, D.I.2
Samartsev, V.N.3
-
103
-
-
58249110568
-
Role of bile acids and bile acid receptors in metabolic regulation
-
Lefebvre P., Cariou B., Lien F., Kuipers F., Staels B. Role of bile acids and bile acid receptors in metabolic regulation. Physiol. Rev. 2009, 89:147-191.
-
(2009)
Physiol. Rev.
, vol.89
, pp. 147-191
-
-
Lefebvre, P.1
Cariou, B.2
Lien, F.3
Kuipers, F.4
Staels, B.5
-
104
-
-
3442901888
-
Identification of intermediates in the bile acid synthetic pathway as ligands for the farnesoid X receptor
-
Nishimaki-Mogami T., Une M., Fujino T., Sato Y., Tamehiro N., Kawahara Y., Shudo K., Inoue K. Identification of intermediates in the bile acid synthetic pathway as ligands for the farnesoid X receptor. J. Lipid Res. 2004, 45:1538-1545.
-
(2004)
J. Lipid Res.
, vol.45
, pp. 1538-1545
-
-
Nishimaki-Mogami, T.1
Une, M.2
Fujino, T.3
Sato, Y.4
Tamehiro, N.5
Kawahara, Y.6
Shudo, K.7
Inoue, K.8
-
105
-
-
0026007201
-
Bile acid synthesis in cultured human hepatoblastoma cells
-
Axelson M., Mork B., Everson G.T. Bile acid synthesis in cultured human hepatoblastoma cells. J. Biol. Chem. 1991, 266:17770-17777.
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 17770-17777
-
-
Axelson, M.1
Mork, B.2
Everson, G.T.3
-
106
-
-
21444446060
-
Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice
-
Ferdinandusse S., Denis S., Overmars H., Van Eeckhoudt L., Van Veldhoven P.P., Duran M., Wanders R.J., Baes M. Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice. J. Biol. Chem. 2005, 280:18658-18666.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 18658-18666
-
-
Ferdinandusse, S.1
Denis, S.2
Overmars, H.3
Van Eeckhoudt, L.4
Van Veldhoven, P.P.5
Duran, M.6
Wanders, R.J.7
Baes, M.8
-
107
-
-
44949161094
-
Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids
-
Sanders R.J., Ofman R., Dacremont G., Wanders R.J., Kemp S. Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids. FASEB J. 2008, 22:2064-2071.
-
(2008)
FASEB J.
, vol.22
, pp. 2064-2071
-
-
Sanders, R.J.1
Ofman, R.2
Dacremont, G.3
Wanders, R.J.4
Kemp, S.5
-
108
-
-
0022620677
-
Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy
-
Rocchiccioli F., Aubourg P., Bougneres P.F. Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy. Pediatr. Res. 1986, 20:62-66.
-
(1986)
Pediatr. Res.
, vol.20
, pp. 62-66
-
-
Rocchiccioli, F.1
Aubourg, P.2
Bougneres, P.F.3
-
109
-
-
0034120711
-
Characteristic urine organic acid profile in peroxisomal biogenesis disorders
-
Korman S.H., Mandel H., Gutman A. Characteristic urine organic acid profile in peroxisomal biogenesis disorders. J. Inherit. Metab. Dis. 2000, 23:425-428.
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, pp. 425-428
-
-
Korman, S.H.1
Mandel, H.2
Gutman, A.3
-
110
-
-
0037941199
-
Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry
-
Rizzo C., Boenzi S., Wanders R.J.A., Duran M., Caruso U., Dionisi-Vici C. Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry. Pediatr. Res. 2003, 53:1-6.
-
(2003)
Pediatr. Res.
, vol.53
, pp. 1-6
-
-
Rizzo, C.1
Boenzi, S.2
Wanders, R.J.A.3
Duran, M.4
Caruso, U.5
Dionisi-Vici, C.6
-
111
-
-
2542489070
-
Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids
-
Ferdinandusse S., Denis S., Van Roermund C.W., Wanders R.J., Dacremont G. Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids. J. Lipid Res. 2004, 45:1104-1111.
-
(2004)
J. Lipid Res.
, vol.45
, pp. 1104-1111
-
-
Ferdinandusse, S.1
Denis, S.2
Van Roermund, C.W.3
Wanders, R.J.4
Dacremont, G.5
-
112
-
-
34247533633
-
Beta-oxidation in hepatocyte cultures from mice with peroxisomal gene knockouts
-
Dirkx R., Meyhi E., Asselberghs S., Reddy J., Baes M., Van Veldhoven P.P. Beta-oxidation in hepatocyte cultures from mice with peroxisomal gene knockouts. Biochem. Biophys. Res. Commun. 2007, 357:718-723.
-
(2007)
Biochem. Biophys. Res. Commun.
, vol.357
, pp. 718-723
-
-
Dirkx, R.1
Meyhi, E.2
Asselberghs, S.3
Reddy, J.4
Baes, M.5
Van Veldhoven, P.P.6
-
113
-
-
48649110209
-
Degradation of very long chain dicarboxylic polyunsaturated fatty acids in mouse hepatocytes, a peroxisomal process
-
Nguyen S.D., Baes M., Van Veldhoven P.P. Degradation of very long chain dicarboxylic polyunsaturated fatty acids in mouse hepatocytes, a peroxisomal process. Biochim. Biophys. Acta 2008, 1781:400-405.
-
(2008)
Biochim. Biophys. Acta
, vol.1781
, pp. 400-405
-
-
Nguyen, S.D.1
Baes, M.2
Van Veldhoven, P.P.3
-
114
-
-
84896882251
-
A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids
-
van Roermund C.W., Ijlst L., Wagemans T., Wanders R.J., Waterham H.R. A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids. Biochim. Biophys. Acta 2014, 1841:563-568.
-
(2014)
Biochim. Biophys. Acta
, vol.1841
, pp. 563-568
-
-
van Roermund, C.W.1
Ijlst, L.2
Wagemans, T.3
Wanders, R.J.4
Waterham, H.R.5
-
115
-
-
0034819367
-
Fibrate induction of the adrenoleukodystrophy-related gene (ABCD2): promoter analysis and role of the peroxisome proliferator-activated receptor PPARalpha
-
Fourcade S., Savary S., Albet S., Gauthe D., Gondcaille C., Pineau T., Bellenger J., Bentejac M., Holzinger A., Berger J., Bugaut M. Fibrate induction of the adrenoleukodystrophy-related gene (ABCD2): promoter analysis and role of the peroxisome proliferator-activated receptor PPARalpha. Eur. J. Biochem. 2001, 268:3490-3500.
-
(2001)
Eur. J. Biochem.
, vol.268
, pp. 3490-3500
-
-
Fourcade, S.1
Savary, S.2
Albet, S.3
Gauthe, D.4
Gondcaille, C.5
Pineau, T.6
Bellenger, J.7
Bentejac, M.8
Holzinger, A.9
Berger, J.10
Bugaut, M.11
-
116
-
-
84995006554
-
Urinary dicarboxylic acids in X-linked adrenoleukodystrophy
-
Kodama S., Nishio H., Nakajima T., Nakamura H. Urinary dicarboxylic acids in X-linked adrenoleukodystrophy. Acta Paediatr. Jpn. 1990, 32:257-261.
-
(1990)
Acta Paediatr. Jpn.
, vol.32
, pp. 257-261
-
-
Kodama, S.1
Nishio, H.2
Nakajima, T.3
Nakamura, H.4
-
117
-
-
33645828659
-
Lipid metabolism and liver inflammation. II. Fatty liver disease and fatty acid oxidation
-
Reddy J.K., Rao M.S. Lipid metabolism and liver inflammation. II. Fatty liver disease and fatty acid oxidation. Am. J. Physiol. Gastrointest. Liver Physiol. 2006, 290:G852-G858.
-
(2006)
Am. J. Physiol. Gastrointest. Liver Physiol.
, vol.290
, pp. G852-G858
-
-
Reddy, J.K.1
Rao, M.S.2
-
118
-
-
0024403575
-
Effect of Reye's syndrome serum on the ultrastructure of isolated liver mitochondria
-
Tonsgard J.H. Effect of Reye's syndrome serum on the ultrastructure of isolated liver mitochondria. Lab. Investig. 1989, 60:568-573.
-
(1989)
Lab. Investig.
, vol.60
, pp. 568-573
-
-
Tonsgard, J.H.1
-
119
-
-
0021319464
-
Antimitochondrial effect of saturated medium chain length (C8-C13) dicarboxylic acids
-
Passi S., Picardo M., Nazzaro-Porro M., Breathnach A., Confaloni A.M., Serlupi-Crescenzi G. Antimitochondrial effect of saturated medium chain length (C8-C13) dicarboxylic acids. Biochem. Pharmacol. 1984, 33:103-108.
-
(1984)
Biochem. Pharmacol.
, vol.33
, pp. 103-108
-
-
Passi, S.1
Picardo, M.2
Nazzaro-Porro, M.3
Breathnach, A.4
Confaloni, A.M.5
Serlupi-Crescenzi, G.6
-
120
-
-
1842486035
-
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
-
Kurian M.A., Ryan S., Besley G.T., Wanders R.J., King M.D. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy. J. Inherit. Metab. Dis. 2004, 27:105-108.
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 105-108
-
-
Kurian, M.A.1
Ryan, S.2
Besley, G.T.3
Wanders, R.J.4
King, M.D.5
-
121
-
-
47149112546
-
Peroxisomal acyl-CoA-oxidase deficiency: two new cases
-
Carrozzo R., Bellini C., Lucioli S., Deodato F., Cassandrini D., Cassanello M., Caruso U., Rizzo C., Rizza T., Napolitano M.L., Wanders R.J., Jakobs C., Bruno C., Santorelli F.M., Dionisi-Vici C., Bonioli E. Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Am. J. Med. Genet. A 2008, 146A:1676-1681.
-
(2008)
Am. J. Med. Genet. A
, vol.146A
, pp. 1676-1681
-
-
Carrozzo, R.1
Bellini, C.2
Lucioli, S.3
Deodato, F.4
Cassandrini, D.5
Cassanello, M.6
Caruso, U.7
Rizzo, C.8
Rizza, T.9
Napolitano, M.L.10
Wanders, R.J.11
Jakobs, C.12
Bruno, C.13
Santorelli, F.M.14
Dionisi-Vici, C.15
Bonioli, E.16
-
122
-
-
0030027568
-
Cloning and tissue expression of two cDNAs encoding the peroxisomal 2-enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase in the guinea pig liver
-
Caira F., Cherkaoui-Malki M., Hoefler G., Latruffe N. Cloning and tissue expression of two cDNAs encoding the peroxisomal 2-enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase in the guinea pig liver. FEBS Lett. 1996, 378:57-60.
-
(1996)
FEBS Lett.
, vol.378
, pp. 57-60
-
-
Caira, F.1
Cherkaoui-Malki, M.2
Hoefler, G.3
Latruffe, N.4
-
123
-
-
0035252794
-
Prenatal and postnatal development of peroxisomal lipid-metabolizing pathways in the mouse
-
Huyghe S., Casteels M., Janssen A., Meulders L., Mannaerts G.P., Declercq P.E., Van Veldhoven P.P., Baes M. Prenatal and postnatal development of peroxisomal lipid-metabolizing pathways in the mouse. Biochem. J. 2001, 353:673-680.
-
(2001)
Biochem. J.
, vol.353
, pp. 673-680
-
-
Huyghe, S.1
Casteels, M.2
Janssen, A.3
Meulders, L.4
Mannaerts, G.P.5
Declercq, P.E.6
Van Veldhoven, P.P.7
Baes, M.8
-
124
-
-
84862333931
-
Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids
-
Houten S.M., Denis S., Argmann C.A., Jia Y., Ferdinandusse S., Reddy J.K., Wanders R.J. Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids. J. Lipid Res. 2012, 53:1296-1303.
-
(2012)
J. Lipid Res.
, vol.53
, pp. 1296-1303
-
-
Houten, S.M.1
Denis, S.2
Argmann, C.A.3
Jia, Y.4
Ferdinandusse, S.5
Reddy, J.K.6
Wanders, R.J.7
-
125
-
-
84885835004
-
The peroxisomal enzyme L-PBE is required to prevent the dietary toxicity of medium-chain fatty acids
-
Ding J., Loizides-Mangold U., Rando G., Zoete V., Michielin O., Reddy J.K., Wahli W., Riezman H., Thorens B. The peroxisomal enzyme L-PBE is required to prevent the dietary toxicity of medium-chain fatty acids. Cell Rep. 2013, 5:248-258.
-
(2013)
Cell Rep.
, vol.5
, pp. 248-258
-
-
Ding, J.1
Loizides-Mangold, U.2
Rando, G.3
Zoete, V.4
Michielin, O.5
Reddy, J.K.6
Wahli, W.7
Riezman, H.8
Thorens, B.9
-
126
-
-
10044237580
-
Targeted disruption of the peroxisomal thiolase B gene in mouse: a new model to study disorders related to peroxisomal metabolism
-
Chevillard G., Clemencet M.C., Latruffe N., Nicolas-FrancŠs V. Targeted disruption of the peroxisomal thiolase B gene in mouse: a new model to study disorders related to peroxisomal metabolism. Biochemie 2004, 86:849-856.
-
(2004)
Biochemie
, vol.86
, pp. 849-856
-
-
Chevillard, G.1
Clemencet, M.C.2
Latruffe, N.3
Nicolas-FrancŠs, V.4
-
127
-
-
0035057092
-
Refsum's disease in an Arabian family
-
Fertl E., Foldy D., Vass K., Auff E., Vass C., Molzer B., Bernheimer H. Refsum's disease in an Arabian family. J. Neurol. Neurosurg. Psychiatry 2001, 70:564-565.
-
(2001)
J. Neurol. Neurosurg. Psychiatry
, vol.70
, pp. 564-565
-
-
Fertl, E.1
Foldy, D.2
Vass, K.3
Auff, E.4
Vass, C.5
Molzer, B.6
Bernheimer, H.7
-
128
-
-
67049165525
-
Phytol-induced hepatotoxicity in mice
-
Mackie J.T., Atshaves B.P., Payne H.R., McIntosh A.L., Schroeder F., Kier A.B. Phytol-induced hepatotoxicity in mice. Toxicol. Pathol. 2009, 37:201-208.
-
(2009)
Toxicol. Pathol.
, vol.37
, pp. 201-208
-
-
Mackie, J.T.1
Atshaves, B.P.2
Payne, H.R.3
McIntosh, A.L.4
Schroeder, F.5
Kier, A.B.6
-
129
-
-
33846031910
-
Metabolism of phytol to phytanic acid in the mouse, and the role of PPARalpha in its regulation
-
Gloerich J., van den Brink D.M., Ruiter J.P., van Vlies N., Vaz F.M., Wanders R.J., Ferdinandusse S. Metabolism of phytol to phytanic acid in the mouse, and the role of PPARalpha in its regulation. J. Lipid Res. 2007, 48:77-85.
-
(2007)
J. Lipid Res.
, vol.48
, pp. 77-85
-
-
Gloerich, J.1
van den Brink, D.M.2
Ruiter, J.P.3
van Vlies, N.4
Vaz, F.M.5
Wanders, R.J.6
Ferdinandusse, S.7
-
130
-
-
70349783629
-
The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes
-
Ronicke S., Kruska N., Kahlert S., Reiser G. The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes. Neurobiol. Dis. 2009, 36:401-410.
-
(2009)
Neurobiol. Dis.
, vol.36
, pp. 401-410
-
-
Ronicke, S.1
Kruska, N.2
Kahlert, S.3
Reiser, G.4
-
131
-
-
39749127916
-
Phytanic acid impairs mitochondrial respiration through protonophoric action
-
Komen J.C., Distelmaier F., Koopman W.J., Wanders R.J., Smeitink J., Willems P.H. Phytanic acid impairs mitochondrial respiration through protonophoric action. Cell. Mol. Life Sci. 2007, 64:3271-3281.
-
(2007)
Cell. Mol. Life Sci.
, vol.64
, pp. 3271-3281
-
-
Komen, J.C.1
Distelmaier, F.2
Koopman, W.J.3
Wanders, R.J.4
Smeitink, J.5
Willems, P.H.6
-
132
-
-
84879090639
-
Disruption of mitochondrial homeostasis by phytanic acid in cerebellum of young rats
-
Busanello E.N., Amaral A.U., Tonin A.M., Zanatta A., Viegas C.M., Vargas C.R., Wajner M. Disruption of mitochondrial homeostasis by phytanic acid in cerebellum of young rats. Cerebellum 2013, 12:362-369.
-
(2013)
Cerebellum
, vol.12
, pp. 362-369
-
-
Busanello, E.N.1
Amaral, A.U.2
Tonin, A.M.3
Zanatta, A.4
Viegas, C.M.5
Vargas, C.R.6
Wajner, M.7
-
133
-
-
84861424351
-
The absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid
-
Liu J., Liang S., Liu X., Brown J.A., Newman K.E., Sunkara M., Morris A.J., Bhatnagar S., Li X., Pujol A., Graf G.A. The absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid. J. Lipid Res. 2012, 53:1071-1079.
-
(2012)
J. Lipid Res.
, vol.53
, pp. 1071-1079
-
-
Liu, J.1
Liang, S.2
Liu, X.3
Brown, J.A.4
Newman, K.E.5
Sunkara, M.6
Morris, A.J.7
Bhatnagar, S.8
Li, X.9
Pujol, A.10
Graf, G.A.11
-
134
-
-
35348876033
-
"Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy
-
Moser H.W., Moser A.B., Hollandsworth K., Brereton N.H., Raymond G.V. "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy. J. Mol. Neurosci. 2007, 33:105-113.
-
(2007)
J. Mol. Neurosci.
, vol.33
, pp. 105-113
-
-
Moser, H.W.1
Moser, A.B.2
Hollandsworth, K.3
Brereton, N.H.4
Raymond, G.V.5
-
135
-
-
0033964508
-
Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders
-
Martinez M., Vazquez E., Garcia-Silva M.T., Manzanares J., Bertran J.M., Castello F., Mougan I. Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders. Am. J. Clin. Nutr. 2000, 71:376S-385S.
-
(2000)
Am. J. Clin. Nutr.
, vol.71
, pp. 376S-385S
-
-
Martinez, M.1
Vazquez, E.2
Garcia-Silva, M.T.3
Manzanares, J.4
Bertran, J.M.5
Castello, F.6
Mougan, I.7
-
136
-
-
0033956643
-
Docosahexaenoic acid deficit is not a major pathogenic factor in peroxisome-deficient mice
-
Janssen A., Baes M., Gressens P., Mannaerts G.P., Declercq P., Van Veldhoven P.P. Docosahexaenoic acid deficit is not a major pathogenic factor in peroxisome-deficient mice. Lab. Investig. 2000, 80:31-35.
-
(2000)
Lab. Investig.
, vol.80
, pp. 31-35
-
-
Janssen, A.1
Baes, M.2
Gressens, P.3
Mannaerts, G.P.4
Declercq, P.5
Van Veldhoven, P.P.6
-
137
-
-
0041335271
-
Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up
-
Sokal E.M., Smets F., Bourgois A., Van Maldergem L., Buts J.P., Reding R., Bernard Otte J., Evrard V., Latinne D., Vincent M.F., Moser A., Soriano H.E. Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up. Transplantation 2003, 76:735-738.
-
(2003)
Transplantation
, vol.76
, pp. 735-738
-
-
Sokal, E.M.1
Smets, F.2
Bourgois, A.3
Van Maldergem, L.4
Buts, J.P.5
Reding, R.6
Bernard Otte, J.7
Evrard, V.8
Latinne, D.9
Vincent, M.F.10
Moser, A.11
Soriano, H.E.12
-
138
-
-
33745084945
-
Hepatocyte transplantation for liver-based metabolic disorders
-
Dhawan A., Mitry R.R., Hughes R.D. Hepatocyte transplantation for liver-based metabolic disorders. J. Inherit. Metab. Dis. 2006, 29:431-435.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 431-435
-
-
Dhawan, A.1
Mitry, R.R.2
Hughes, R.D.3
-
139
-
-
19944416601
-
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type
-
Van Maldergem L., Moser A.B., Vincent M.F., Roland D., Reding R., Otte J.B., Wanders R.J., Sokal E. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. J. Inherit. Metab. Dis. 2005, 28:593-600.
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 593-600
-
-
Van Maldergem, L.1
Moser, A.B.2
Vincent, M.F.3
Roland, D.4
Reding, R.5
Otte, J.B.6
Wanders, R.J.7
Sokal, E.8
-
140
-
-
43049167457
-
Absence of functional peroxisomes from mouse CNS causes dysmyelination and axon degeneration
-
Hulshagen L., Krysko O., Bottelbergs A., Huyghe S., Klein R., Van Veldhoven P.P., De Deyn P.P., D'Hooge R., Hartmann D., Baes M. Absence of functional peroxisomes from mouse CNS causes dysmyelination and axon degeneration. J Neurosci. 2008, 28:4015-4027.
-
(2008)
J Neurosci.
, vol.28
, pp. 4015-4027
-
-
Hulshagen, L.1
Krysko, O.2
Bottelbergs, A.3
Huyghe, S.4
Klein, R.5
Van Veldhoven, P.P.6
De Deyn, P.P.7
D'Hooge, R.8
Hartmann, D.9
Baes, M.10
-
141
-
-
78650867881
-
PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress
-
Muller C.C., Nguyen T.H., Ahlemeyer B., Meshram M., Santrampurwala N., Cao S., Sharp P., Fietz P.B., Baumgart-Vogt E., Crane D.I. PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress. Dis. Model. Mech. 2011, 4:104-119.
-
(2011)
Dis. Model. Mech.
, vol.4
, pp. 104-119
-
-
Muller, C.C.1
Nguyen, T.H.2
Ahlemeyer, B.3
Meshram, M.4
Santrampurwala, N.5
Cao, S.6
Sharp, P.7
Fietz, P.B.8
Baumgart-Vogt, E.9
Crane, D.I.10
-
142
-
-
84895692214
-
Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study
-
Wang R.Y., Monuki E.S., Powers J., Schwartz P.H., Watkins P.A., Shi Y., Moser A., Shrier D.A., Waterham H.R., Nugent D.J., Abdenur J.E. Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study. J. Inherit. Metab. Dis. 2014, 37:791-799.
-
(2014)
J. Inherit. Metab. Dis.
, vol.37
, pp. 791-799
-
-
Wang, R.Y.1
Monuki, E.S.2
Powers, J.3
Schwartz, P.H.4
Watkins, P.A.5
Shi, Y.6
Moser, A.7
Shrier, D.A.8
Waterham, H.R.9
Nugent, D.J.10
Abdenur, J.E.11
-
143
-
-
0019966135
-
Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver
-
Scotto J.M., Hadchouel M., Odievre M., Laudat M.H., Saudubray J.M., Dulac O., Beucler I., Beaune P. Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver. J. Inherit. Metab. Dis. 1982, 5:83-90.
-
(1982)
J. Inherit. Metab. Dis.
, vol.5
, pp. 83-90
-
-
Scotto, J.M.1
Hadchouel, M.2
Odievre, M.3
Laudat, M.H.4
Saudubray, J.M.5
Dulac, O.6
Beucler, I.7
Beaune, P.8
-
144
-
-
0023901562
-
Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years
-
Robertson E.F., Poulos A., Sharp P., Manson J., Wise G., Jaunzems A., Carter R. Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years. Eur. J. Pediatr. 1988, 147:133-142.
-
(1988)
Eur. J. Pediatr.
, vol.147
, pp. 133-142
-
-
Robertson, E.F.1
Poulos, A.2
Sharp, P.3
Manson, J.4
Wise, G.5
Jaunzems, A.6
Carter, R.7
-
145
-
-
34548289424
-
Early dietary treatments with Lorenzo's oil and docosahexaenoic acid for neurological development in a case with Zellweger syndrome
-
Tanaka K., Shimizu T., Ohtsuka Y., Yamashiro Y., Oshida K. Early dietary treatments with Lorenzo's oil and docosahexaenoic acid for neurological development in a case with Zellweger syndrome. Brain Dev. 2007, 29:586-589.
-
(2007)
Brain Dev.
, vol.29
, pp. 586-589
-
-
Tanaka, K.1
Shimizu, T.2
Ohtsuka, Y.3
Yamashiro, Y.4
Oshida, K.5
-
146
-
-
84858142449
-
Docosahexaenoic acid mediates peroxisomal elongation, a prerequisite for peroxisome division
-
Itoyama A., Honsho M., Abe Y., Moser A., Yoshida Y., Fujiki Y. Docosahexaenoic acid mediates peroxisomal elongation, a prerequisite for peroxisome division. J. Cell Sci. 2012, 125:589-602.
-
(2012)
J. Cell Sci.
, vol.125
, pp. 589-602
-
-
Itoyama, A.1
Honsho, M.2
Abe, Y.3
Moser, A.4
Yoshida, Y.5
Fujiki, Y.6
-
147
-
-
84920970025
-
Treatment of bile acid amidation defects with glycocholic acid
-
Heubi J.E., Setchell K.D., Jha P., Buckley D., Zhang W., Rosenthal P., Potter C., Horslen S., Suskind D. Treatment of bile acid amidation defects with glycocholic acid. Hepatology 2015, 61:268-274.
-
(2015)
Hepatology
, vol.61
, pp. 268-274
-
-
Heubi, J.E.1
Setchell, K.D.2
Jha, P.3
Buckley, D.4
Zhang, W.5
Rosenthal, P.6
Potter, C.7
Horslen, S.8
Suskind, D.9
-
148
-
-
0026571062
-
Oral bile acid treatment and the patient with Zellweger syndrome
-
Setchell K.D., Bragetti P., Zimmer-Nechemias L., Daugherty C., Pelli M.A., Vaccaro R., Gentili G., Distrutti E., Dozzini G., Morelli A., et al. Oral bile acid treatment and the patient with Zellweger syndrome. Hepatology 1992, 15:198-207.
-
(1992)
Hepatology
, vol.15
, pp. 198-207
-
-
Setchell, K.D.1
Bragetti, P.2
Zimmer-Nechemias, L.3
Daugherty, C.4
Pelli, M.A.5
Vaccaro, R.6
Gentili, G.7
Distrutti, E.8
Dozzini, G.9
Morelli, A.10
-
149
-
-
0036667787
-
Oral bile acid treatment in two Japanese patients with Zellweger syndrome
-
Maeda K., Kimura A., Yamato Y., Nittono H., Takei H., Sato T., Mitsubuchi H., Murai T., Kurosawa T. Oral bile acid treatment in two Japanese patients with Zellweger syndrome. J. Pediatr. Gastroenterol. Nutr. 2002, 35:227-230.
-
(2002)
J. Pediatr. Gastroenterol. Nutr.
, vol.35
, pp. 227-230
-
-
Maeda, K.1
Kimura, A.2
Yamato, Y.3
Nittono, H.4
Takei, H.5
Sato, T.6
Mitsubuchi, H.7
Murai, T.8
Kurosawa, T.9
-
150
-
-
0021961904
-
Unsuccessful attempts to induce peroxisomes in two cases of Zellweger disease by treatment with clofibrate
-
Bjorkhem I., Blomstrand S., Glaumann H., Strandvik B. Unsuccessful attempts to induce peroxisomes in two cases of Zellweger disease by treatment with clofibrate. Pediatr. Res. 1985, 19:590-593.
-
(1985)
Pediatr. Res.
, vol.19
, pp. 590-593
-
-
Bjorkhem, I.1
Blomstrand, S.2
Glaumann, H.3
Strandvik, B.4
-
151
-
-
0034059821
-
Pharmacological induction of peroxisomes in peroxisome biogenesis disorders
-
Wei H., Kemp S., McGuinness M.C., Moser A.B., Smith K.D. Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. Ann. Neurol. 2000, 47:286-296.
-
(2000)
Ann. Neurol.
, vol.47
, pp. 286-296
-
-
Wei, H.1
Kemp, S.2
McGuinness, M.C.3
Moser, A.B.4
Smith, K.D.5
-
152
-
-
20244364534
-
Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator
-
Gondcaille C., Depreter M., Fourcade S., Lecca M.R., Leclercq S., Martin P.G., Pineau T., Cadepond F., ElEtr M., Bertrand N., Beley A., Duclos S., De Craemer D., Roels F., Savary S., Bugaut M. Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator. J. Cell Biol. 2005, 169:93-104.
-
(2005)
J. Cell Biol.
, vol.169
, pp. 93-104
-
-
Gondcaille, C.1
Depreter, M.2
Fourcade, S.3
Lecca, M.R.4
Leclercq, S.5
Martin, P.G.6
Pineau, T.7
Cadepond, F.8
ElEtr, M.9
Bertrand, N.10
Beley, A.11
Duclos, S.12
De Craemer, D.13
Roels, F.14
Savary, S.15
Bugaut, M.16
-
153
-
-
77950409779
-
Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds
-
Zhang R., Chen L., Jiralerspong S., Snowden A., Steinberg S., Braverman N. Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:5569-5574.
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 5569-5574
-
-
Zhang, R.1
Chen, L.2
Jiralerspong, S.3
Snowden, A.4
Steinberg, S.5
Braverman, N.6
-
154
-
-
79953716256
-
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations
-
Dranchak P.K., Di P.E., Snowden A., Oesch N., Braverman N.E., Steinberg S.J., Hacia J.G. Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. J. Cell. Biochem. 2011, 112:1250-1258.
-
(2011)
J. Cell. Biochem.
, vol.112
, pp. 1250-1258
-
-
Dranchak, P.K.1
Di, P.E.2
Snowden, A.3
Oesch, N.4
Braverman, N.E.5
Steinberg, S.J.6
Hacia, J.G.7
|