-
1
-
-
34548843340
-
Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction
-
Ahtiainen L., Kolikova J., Mutka A.L., Luiro K., Gentile M., Ikonen E., Khiroug L., Jalanko A., Kopra O. Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction. Neurobiol. Dis. 2007, 28(1):52-64.
-
(2007)
Neurobiol. Dis.
, vol.28
, Issue.1
, pp. 52-64
-
-
Ahtiainen, L.1
Kolikova, J.2
Mutka, A.L.3
Luiro, K.4
Gentile, M.5
Ikonen, E.6
Khiroug, L.7
Jalanko, A.8
Kopra, O.9
-
2
-
-
2942597781
-
Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis
-
Bible E., Gupta P., Hofmann S.L., Cooper J.D. Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol. Dis. 2004, 16(2):346-359.
-
(2004)
Neurobiol. Dis.
, vol.16
, Issue.2
, pp. 346-359
-
-
Bible, E.1
Gupta, P.2
Hofmann, S.L.3
Cooper, J.D.4
-
3
-
-
77949394551
-
FTY720 stimulates 27-hydroxycholesterol production and confers atheroprotective effects in human primary macrophages
-
Blom T., Back N., Mutka A.L., Bittman R., Li Z., de Lera A., Kovanen P.T., Diczfalusy U., Ikonen E. FTY720 stimulates 27-hydroxycholesterol production and confers atheroprotective effects in human primary macrophages. Circ. Res. 2010, 106(4):720-729.
-
(2010)
Circ. Res.
, vol.106
, Issue.4
, pp. 720-729
-
-
Blom, T.1
Back, N.2
Mutka, A.L.3
Bittman, R.4
Li, Z.5
de Lera, A.6
Kovanen, P.T.7
Diczfalusy, U.8
Ikonen, E.9
-
4
-
-
0028206676
-
Immunohistochemical detection of myelin basic protein is a sensitive marker of myelination in second trimester human fetal spinal cord
-
Bodhireddy S.R., Lyman W.D., Rashbaum W.K., Weidenheim K.M. Immunohistochemical detection of myelin basic protein is a sensitive marker of myelination in second trimester human fetal spinal cord. J. Neuropathol. Exp. Neurol. 1994, 53(2):144-149.
-
(1994)
J. Neuropathol. Exp. Neurol.
, vol.53
, Issue.2
, pp. 144-149
-
-
Bodhireddy, S.R.1
Lyman, W.D.2
Rashbaum, W.K.3
Weidenheim, K.M.4
-
5
-
-
33748487414
-
Myelin basic protein: a multifunctional protein
-
Boggs J.M. Myelin basic protein: a multifunctional protein. Cell. Mol. Life Sci. 2006, 63(17):1945-1961.
-
(2006)
Cell. Mol. Life Sci.
, vol.63
, Issue.17
, pp. 1945-1961
-
-
Boggs, J.M.1
-
6
-
-
38149018555
-
Immune system irregularities in lysosomal storage disorders
-
Castaneda J.A., Lim M.J., Cooper J.D., Pearce D.A. Immune system irregularities in lysosomal storage disorders. Acta Neuropathol. 2008, 115(2):159-174.
-
(2008)
Acta Neuropathol.
, vol.115
, Issue.2
, pp. 159-174
-
-
Castaneda, J.A.1
Lim, M.J.2
Cooper, J.D.3
Pearce, D.A.4
-
7
-
-
0032568565
-
Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease
-
Chen C.S., Bach G., Pagano R.E. Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc. Natl. Acad. Sci. U. S. A. 1998, 95(11):6373-6378.
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, Issue.11
, pp. 6373-6378
-
-
Chen, C.S.1
Bach, G.2
Pagano, R.E.3
-
8
-
-
0033546958
-
Broad screening test for sphingolipid-storage diseases
-
Chen C.S., Patterson M.C., Wheatley C.L., O'Brien J.F., Pagano R.E. Broad screening test for sphingolipid-storage diseases. Lancet 1999, 354(9182):901-905.
-
(1999)
Lancet
, vol.354
, Issue.9182
, pp. 901-905
-
-
Chen, C.S.1
Patterson, M.C.2
Wheatley, C.L.3
O'Brien, J.F.4
Pagano, R.E.5
-
9
-
-
78649747041
-
The neuronal ceroid lipofuscinoses: the same, but different?
-
Cooper J.D. The neuronal ceroid lipofuscinoses: the same, but different?. Biochem. Soc. Trans. 2010, 38(6):1448-1452.
-
(2010)
Biochem. Soc. Trans.
, vol.38
, Issue.6
, pp. 1448-1452
-
-
Cooper, J.D.1
-
10
-
-
0034918471
-
Altered levels of high-energy phosphate compounds in fibroblasts from different forms of neuronal ceroid lipofuscinoses: further evidence for mitochondrial involvement
-
Das A.M., von Harlem R., Feist M., Lucke T., Kohlschutter A. Altered levels of high-energy phosphate compounds in fibroblasts from different forms of neuronal ceroid lipofuscinoses: further evidence for mitochondrial involvement. Eur. J. Paediatr. Neurol. 2001, 5(Suppl. A):143-146.
-
(2001)
Eur. J. Paediatr. Neurol.
, vol.5
, Issue.SUPPL. A
, pp. 143-146
-
-
Das, A.M.1
von Harlem, R.2
Feist, M.3
Lucke, T.4
Kohlschutter, A.5
-
11
-
-
3543104951
-
Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal
-
Dietschy J.M., Turley S.D. Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal. J. Lipid Res. 2004, 45(8):1375-1397.
-
(2004)
J. Lipid Res.
, vol.45
, Issue.8
, pp. 1375-1397
-
-
Dietschy, J.M.1
Turley, S.D.2
-
13
-
-
12944291307
-
Membrane trafficking and mitochondrial abnormalities precede subunit C deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
-
Fossale E., Wolf P., Espinola J.A., Lubicz-Nawrocka T., Teed A.M., Gao H., Rigamonti D., Cattaneo E., MacDonald M.E., Cotman S.L. Membrane trafficking and mitochondrial abnormalities precede subunit C deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci. 2004, 5:57.
-
(2004)
BMC Neurosci.
, vol.5
, pp. 57
-
-
Fossale, E.1
Wolf, P.2
Espinola, J.A.3
Lubicz-Nawrocka, T.4
Teed, A.M.5
Gao, H.6
Rigamonti, D.7
Cattaneo, E.8
MacDonald, M.E.9
Cotman, S.L.10
-
14
-
-
0022922108
-
Characterization of ameboid microglia isolated from developing mammalian brain
-
Giulian D., Baker T.J. Characterization of ameboid microglia isolated from developing mammalian brain. J. Neurosci. 1986, 6(8):2163-2178.
-
(1986)
J. Neurosci.
, vol.6
, Issue.8
, pp. 2163-2178
-
-
Giulian, D.1
Baker, T.J.2
-
15
-
-
0032486428
-
Axonal swellings and degeneration in mice lacking the major proteolipid of myelin
-
Griffiths I., Klugmann M., Anderson T., Yool D., Thomson C., Schwab M.H., Schneider A., Zimmermann F., McCulloch M., Nadon N., et al. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 1998, 280(5369):1610-1613.
-
(1998)
Science
, vol.280
, Issue.5369
, pp. 1610-1613
-
-
Griffiths, I.1
Klugmann, M.2
Anderson, T.3
Yool, D.4
Thomson, C.5
Schwab, M.H.6
Schneider, A.7
Zimmermann, F.8
McCulloch, M.9
Nadon, N.10
-
16
-
-
33845972298
-
Cathepsin D, a lysosomal protease, regulates ABCA1-mediated lipid efflux
-
Haidar B., Kiss R.S., Sarov-Blat L., Brunet R., Harder C., McPherson R., Marcel Y.L. Cathepsin D, a lysosomal protease, regulates ABCA1-mediated lipid efflux. J. Biol. Chem. 2006, 281(52):39971-39981.
-
(2006)
J. Biol. Chem.
, vol.281
, Issue.52
, pp. 39971-39981
-
-
Haidar, B.1
Kiss, R.S.2
Sarov-Blat, L.3
Brunet, R.4
Harder, C.5
McPherson, R.6
Marcel, Y.L.7
-
17
-
-
0026588776
-
Development of myelination in the human fetal and infant cerebrum: a myelin basic protein immunohistochemical study
-
Hasegawa M., Houdou S., Mito T., Takashima S., Asanuma K., Ohno T. Development of myelination in the human fetal and infant cerebrum: a myelin basic protein immunohistochemical study. Brain Dev. 1992, 14(1):1-6.
-
(1992)
Brain Dev.
, vol.14
, Issue.1
, pp. 1-6
-
-
Hasegawa, M.1
Houdou, S.2
Mito, T.3
Takashima, S.4
Asanuma, K.5
Ohno, T.6
-
18
-
-
0342803576
-
Expression of palmitoyl protein thioesterase in neurons
-
Heinonen O., Kyttala A., Lehmus E., Paunio T., Peltonen L., Jalanko A. Expression of palmitoyl protein thioesterase in neurons. Mol. Genet. Metab. 2000, 69(2):123-129.
-
(2000)
Mol. Genet. Metab.
, vol.69
, Issue.2
, pp. 123-129
-
-
Heinonen, O.1
Kyttala, A.2
Lehmus, E.3
Paunio, T.4
Peltonen, L.5
Jalanko, A.6
-
19
-
-
0033849174
-
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)
-
Holmberg V., Lauronen L., Autti T., Santavuori P., Savukoski M., Uvebrant P., Hofman I., Peltonen L., Jarvela I. Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). Neurology 2000, 55(4):579-581.
-
(2000)
Neurology
, vol.55
, Issue.4
, pp. 579-581
-
-
Holmberg, V.1
Lauronen, L.2
Autti, T.3
Santavuori, P.4
Savukoski, M.5
Uvebrant, P.6
Hofman, I.7
Peltonen, L.8
Jarvela, I.9
-
20
-
-
2342599787
-
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain
-
Holmberg V., Jalanko A., Isosomppi J., Fabritius A.L., Peltonen L., Kopra O. The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain. Neurobiol. Dis. 2004, 16(1):29-40.
-
(2004)
Neurobiol. Dis.
, vol.16
, Issue.1
, pp. 29-40
-
-
Holmberg, V.1
Jalanko, A.2
Isosomppi, J.3
Fabritius, A.L.4
Peltonen, L.5
Kopra, O.6
-
21
-
-
0027396833
-
The molecular basis of the human serum paraoxonase activity polymorphism
-
Humbert R., Adler D.A., Disteche C.M., Hassett C., Omiecinski C.J., Furlong C.E. The molecular basis of the human serum paraoxonase activity polymorphism. Nat. Genet. 1993, 3(1):73-76.
-
(1993)
Nat. Genet.
, vol.3
, Issue.1
, pp. 73-76
-
-
Humbert, R.1
Adler, D.A.2
Disteche, C.M.3
Hassett, C.4
Omiecinski, C.J.5
Furlong, C.E.6
-
22
-
-
0037091074
-
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
-
Isosomppi J., Vesa J., Jalanko A., Peltonen L. Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. Hum. Mol. Genet. 2002, 11(8):885-891.
-
(2002)
Hum. Mol. Genet.
, vol.11
, Issue.8
, pp. 885-891
-
-
Isosomppi, J.1
Vesa, J.2
Jalanko, A.3
Peltonen, L.4
-
23
-
-
0032102358
-
Microglia-specific localisation of a novel calcium binding protein, Iba1
-
Ito D., Imai Y., Ohsawa K., Nakajima K., Fukuuchi Y., Kohsaka S. Microglia-specific localisation of a novel calcium binding protein, Iba1. Brain Res. Mol. Brain Res. 1998, 57(1):1-9.
-
(1998)
Brain Res. Mol. Brain Res.
, vol.57
, Issue.1
, pp. 1-9
-
-
Ito, D.1
Imai, Y.2
Ohsawa, K.3
Nakajima, K.4
Fukuuchi, Y.5
Kohsaka, S.6
-
24
-
-
48249146962
-
Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis
-
Jabs S., Quitsch A., Kakela R., Koch B., Tyynela J., Brade H., Glatzel M., Walkley S., Saftig P., Vanier M.T., et al. Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis. J. Neurochem. 2008, 106(3):1415-1425.
-
(2008)
J. Neurochem.
, vol.106
, Issue.3
, pp. 1415-1425
-
-
Jabs, S.1
Quitsch, A.2
Kakela, R.3
Koch, B.4
Tyynela, J.5
Brade, H.6
Glatzel, M.7
Walkley, S.8
Saftig, P.9
Vanier, M.T.10
-
25
-
-
33751024412
-
From genes to systems: new global strategies for the characterization of NCL biology
-
Jalanko A., Tyynela J., Peltonen L. From genes to systems: new global strategies for the characterization of NCL biology. Biochim. Biophys. Acta 2006, 1762(10):934-944.
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, Issue.10
, pp. 934-944
-
-
Jalanko, A.1
Tyynela, J.2
Peltonen, L.3
-
26
-
-
19444375648
-
Determination of human plasma phospholipid transfer protein mass and activity
-
Jauhiainen M., Ehnholm C. Determination of human plasma phospholipid transfer protein mass and activity. Methods 2005, 36(2):97-101.
-
(2005)
Methods
, vol.36
, Issue.2
, pp. 97-101
-
-
Jauhiainen, M.1
Ehnholm, C.2
-
27
-
-
0037339630
-
Analysis of phospholipid molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry
-
Kakela R., Somerharju P., Tyynela J. Analysis of phospholipid molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry. J. Neurochem. 2003, 84(5):1051-1065.
-
(2003)
J. Neurochem.
, vol.84
, Issue.5
, pp. 1051-1065
-
-
Kakela, R.1
Somerharju, P.2
Tyynela, J.3
-
28
-
-
33751349970
-
Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis
-
Kielar C., Maddox L., Bible E., Pontikis C.C., Macauley S.L., Griffey M.A., Wong M., Sands M.S., Cooper J.D. Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol. Dis. 2007, 25(1):150-162.
-
(2007)
Neurobiol. Dis.
, vol.25
, Issue.1
, pp. 150-162
-
-
Kielar, C.1
Maddox, L.2
Bible, E.3
Pontikis, C.C.4
Macauley, S.L.5
Griffey, M.A.6
Wong, M.7
Sands, M.S.8
Cooper, J.D.9
-
29
-
-
0036175853
-
Dietary determinants of serum paraoxonase activity in healthy humans
-
Kleemola P., Freese R., Jauhiainen M., Pahlman R., Alfthan G., Mutanen M. Dietary determinants of serum paraoxonase activity in healthy humans. Atherosclerosis 2002, 160(2):425-432.
-
(2002)
Atherosclerosis
, vol.160
, Issue.2
, pp. 425-432
-
-
Kleemola, P.1
Freese, R.2
Jauhiainen, M.3
Pahlman, R.4
Alfthan, G.5
Mutanen, M.6
-
30
-
-
0006278393
-
A method for the combined staining of cells and fibers in the nervous system
-
Kluver H., Barrera E. A method for the combined staining of cells and fibers in the nervous system. J. Neuropathol. Exp. Neurol. 1953, 12(4):400-403.
-
(1953)
J. Neuropathol. Exp. Neurol.
, vol.12
, Issue.4
, pp. 400-403
-
-
Kluver, H.1
Barrera, E.2
-
31
-
-
9744278990
-
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
-
Kopra O., Vesa J., von Schantz C., Manninen T., Minye H., Fabritius A.L., Rapola J., van Diggelen O.P., Saarela J., Jalanko A., et al. A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. Hum. Mol. Genet. 2004, 13(23):2893-2906.
-
(2004)
Hum. Mol. Genet.
, vol.13
, Issue.23
, pp. 2893-2906
-
-
Kopra, O.1
Vesa, J.2
von Schantz, C.3
Manninen, T.4
Minye, H.5
Fabritius, A.L.6
Rapola, J.7
van Diggelen, O.P.8
Saarela, J.9
Jalanko, A.10
-
32
-
-
84857676339
-
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
-
Epub 2011 Nov 16
-
Kousi M., Lehesjoki A.E., Mole S.E. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum. Mutat. 2012, 33(1):42-63. Epub 2011 Nov 16. 10.1002/humu.21624.
-
(2012)
Hum. Mutat.
, vol.33
, Issue.1
, pp. 42-63
-
-
Kousi, M.1
Lehesjoki, A.E.2
Mole, S.E.3
-
33
-
-
0029905656
-
Structural and functional diversity of paraoxonases
-
La Du B.N. Structural and functional diversity of paraoxonases. Nat. Med. 1996, 2(11):1186-1187.
-
(1996)
Nat. Med.
, vol.2
, Issue.11
, pp. 1186-1187
-
-
La Du, B.N.1
-
34
-
-
0037370361
-
Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination
-
Lappe-Siefke C., Goebbels S., Gravel M., Nicksch E., Lee J., Braun P.E., Griffiths I.R., Nave K.A. Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination. Nat. Genet. 2003, 33(3):366-374.
-
(2003)
Nat. Genet.
, vol.33
, Issue.3
, pp. 366-374
-
-
Lappe-Siefke, C.1
Goebbels, S.2
Gravel, M.3
Nicksch, E.4
Lee, J.5
Braun, P.E.6
Griffiths, I.R.7
Nave, K.A.8
-
35
-
-
20044372525
-
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease
-
Li R., Johnson A.B., Salomons G., Goldman J.E., Naidu S., Quinlan R., Cree B., Ruyle S.Z., Banwell B., D'Hooghe M., et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann. Neurol. 2005, 57(3):310-326.
-
(2005)
Ann. Neurol.
, vol.57
, Issue.3
, pp. 310-326
-
-
Li, R.1
Johnson, A.B.2
Salomons, G.3
Goldman, J.E.4
Naidu, S.5
Quinlan, R.6
Cree, B.7
Ruyle, S.Z.8
Banwell, B.9
D'Hooghe, M.10
-
36
-
-
66349127425
-
Rab8 regulates ABCA1 cell surface expression and facilitates cholesterol efflux in primary human macrophages
-
Linder M.D., Mayranpaa M.I., Peranen J., Pietila T.E., Pietiainen V.M., Uronen R.L., Olkkonen V.M., Kovanen P.T., Ikonen E. Rab8 regulates ABCA1 cell surface expression and facilitates cholesterol efflux in primary human macrophages. Arterioscler. Thromb. Vasc. Biol. 2009, 29(6):883-888.
-
(2009)
Arterioscler. Thromb. Vasc. Biol.
, vol.29
, Issue.6
, pp. 883-888
-
-
Linder, M.D.1
Mayranpaa, M.I.2
Peranen, J.3
Pietila, T.E.4
Pietiainen, V.M.5
Uronen, R.L.6
Olkkonen, V.M.7
Kovanen, P.T.8
Ikonen, E.9
-
37
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
-
Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001, 25(4):402-408.
-
(2001)
Methods
, vol.25
, Issue.4
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
38
-
-
84907125345
-
The binding of luxol fast blue ARN by various biological lipids
-
Lycette R.M., Danforth W.F., Koppel J.L., Olwin J.H. The binding of luxol fast blue ARN by various biological lipids. Stain Technol. 1970, 45(4):155-160.
-
(1970)
Stain Technol.
, vol.45
, Issue.4
, pp. 155-160
-
-
Lycette, R.M.1
Danforth, W.F.2
Koppel, J.L.3
Olwin, J.H.4
-
39
-
-
43049085929
-
Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism
-
Lyly A., Marjavaara S.K., Kyttala A., Uusi-Rauva K., Luiro K., Kopra O., Martinez L.O., Tanhuanpaa K., Kalkkinen N., Suomalainen A., et al. Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism. Hum. Mol. Genet. 2008, 17(10):1406-1417.
-
(2008)
Hum. Mol. Genet.
, vol.17
, Issue.10
, pp. 1406-1417
-
-
Lyly, A.1
Marjavaara, S.K.2
Kyttala, A.3
Uusi-Rauva, K.4
Luiro, K.5
Kopra, O.6
Martinez, L.O.7
Tanhuanpaa, K.8
Kalkkinen, N.9
Suomalainen, A.10
-
40
-
-
71949103162
-
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins
-
Lyly A., von Schantz C., Heine C., Schmiedt M.L., Sipila T., Jalanko A., Kyttala A. Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. BMC Cell Biol. 2009, 10:83.
-
(2009)
BMC Cell Biol.
, vol.10
, pp. 83
-
-
Lyly, A.1
von Schantz, C.2
Heine, C.3
Schmiedt, M.L.4
Sipila, T.5
Jalanko, A.6
Kyttala, A.7
-
41
-
-
0037413638
-
Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis
-
Martinez L.O., Jacquet S., Esteve J.P., Rolland C., Cabezon E., Champagne E., Pineau T., Georgeaud V., Walker J.E., Terce F., et al. Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis. Nature 2003, 421(6918):75-79.
-
(2003)
Nature
, vol.421
, Issue.6918
, pp. 75-79
-
-
Martinez, L.O.1
Jacquet, S.2
Esteve, J.P.3
Rolland, C.4
Cabezon, E.5
Champagne, E.6
Pineau, T.7
Georgeaud, V.8
Walker, J.E.9
Terce, F.10
-
42
-
-
4744376060
-
Lipid and cholesterol trafficking in NPC
-
Mukherjee S., Maxfield F.R. Lipid and cholesterol trafficking in NPC. Biochim. Biophys. Acta 2004, 1685(1-3):28-37.
-
(2004)
Biochim. Biophys. Acta
, vol.1685
, Issue.1-3
, pp. 28-37
-
-
Mukherjee, S.1
Maxfield, F.R.2
-
43
-
-
33845293272
-
CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase
-
Narayan S.B., Rakheja D., Tan L., Pastor J.V., Bennett M.J. CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Ann. Neurol. 2006, 60(5):570-577.
-
(2006)
Ann. Neurol.
, vol.60
, Issue.5
, pp. 570-577
-
-
Narayan, S.B.1
Rakheja, D.2
Tan, L.3
Pastor, J.V.4
Bennett, M.J.5
-
44
-
-
0346732306
-
Phospholipid transfer protein interacts with and stabilizes ATP-binding cassette transporter A1 and enhances cholesterol efflux from cells
-
Oram J.F., Wolfbauer G., Vaughan A.M., Tang C., Albers J.J. Phospholipid transfer protein interacts with and stabilizes ATP-binding cassette transporter A1 and enhances cholesterol efflux from cells. J. Biol. Chem. 2003, 278(52):52379-52385.
-
(2003)
J. Biol. Chem.
, vol.278
, Issue.52
, pp. 52379-52385
-
-
Oram, J.F.1
Wolfbauer, G.2
Vaughan, A.M.3
Tang, C.4
Albers, J.J.5
-
45
-
-
24044496235
-
Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)
-
Oswald M.J., Palmer D.N., Kay G.W., Shemilt S.J., Rezaie P., Cooper J.D. Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6). Neurobiol. Dis. 2005, 20(1):49-63.
-
(2005)
Neurobiol. Dis.
, vol.20
, Issue.1
, pp. 49-63
-
-
Oswald, M.J.1
Palmer, D.N.2
Kay, G.W.3
Shemilt, S.J.4
Rezaie, P.5
Cooper, J.D.6
-
46
-
-
51349151771
-
Production, characterization, and efficient transfection of highly pure oligodendrocyte precursor cultures from mouse embryonic neural progenitors
-
Pedraza C.E., Monk R., Lei J., Hao Q., Macklin W.B. Production, characterization, and efficient transfection of highly pure oligodendrocyte precursor cultures from mouse embryonic neural progenitors. Glia 2008, 56(12):1339-1352.
-
(2008)
Glia
, vol.56
, Issue.12
, pp. 1339-1352
-
-
Pedraza, C.E.1
Monk, R.2
Lei, J.3
Hao, Q.4
Macklin, W.B.5
-
48
-
-
77955088249
-
Deregulated sphingolipid metabolism and membrane organization in neurodegenerative disorders
-
Piccinini M., Scandroglio F., Prioni S., Buccinna B., Loberto N., Aureli M., Chigorno V., Lupino E., DeMarco G., Lomartire A., et al. Deregulated sphingolipid metabolism and membrane organization in neurodegenerative disorders. Mol. Neurobiol. 2010, 41(2-3):314-340.
-
(2010)
Mol. Neurobiol.
, vol.41
, Issue.2-3
, pp. 314-340
-
-
Piccinini, M.1
Scandroglio, F.2
Prioni, S.3
Buccinna, B.4
Loberto, N.5
Aureli, M.6
Chigorno, V.7
Lupino, E.8
DeMarco, G.9
Lomartire, A.10
-
49
-
-
27744565604
-
Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease
-
Pontikis C.C., Cotman S.L., MacDonald M.E., Cooper J.D. Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease. Neurobiol. Dis. 2005, 20(3):823-836.
-
(2005)
Neurobiol. Dis.
, vol.20
, Issue.3
, pp. 823-836
-
-
Pontikis, C.C.1
Cotman, S.L.2
MacDonald, M.E.3
Cooper, J.D.4
-
50
-
-
0033203501
-
Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases
-
Puri V., Watanabe R., Dominguez M., Sun X., Wheatley C.L., Marks D.L., Pagano R.E. Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases. Nat. Cell Biol. 1999, 1(6):386-388.
-
(1999)
Nat. Cell Biol.
, vol.1
, Issue.6
, pp. 386-388
-
-
Puri, V.1
Watanabe, R.2
Dominguez, M.3
Sun, X.4
Wheatley, C.L.5
Marks, D.L.6
Pagano, R.E.7
-
51
-
-
0035817629
-
Clathrin-dependent and -independent internalization of plasma membrane sphingolipids initiates two Golgi targeting pathways
-
Puri V., Watanabe R., Singh R.D., Dominguez M., Brown J.C., Wheatley C.L., Marks D.L., Pagano R.E. Clathrin-dependent and -independent internalization of plasma membrane sphingolipids initiates two Golgi targeting pathways. J. Cell Biol. 2001, 154(3):535-547.
-
(2001)
J. Cell Biol.
, vol.154
, Issue.3
, pp. 535-547
-
-
Puri, V.1
Watanabe, R.2
Singh, R.D.3
Dominguez, M.4
Brown, J.C.5
Wheatley, C.L.6
Marks, D.L.7
Pagano, R.E.8
-
52
-
-
0038756797
-
Sphingolipid storage induces accumulation of intracellular cholesterol by stimulating SREBP-1 cleavage
-
Puri V., Jefferson J.R., Singh R.D., Wheatley C.L., Marks D.L., Pagano R.E. Sphingolipid storage induces accumulation of intracellular cholesterol by stimulating SREBP-1 cleavage. J. Biol. Chem. 2003, 278(23):20961-20970.
-
(2003)
J. Biol. Chem.
, vol.278
, Issue.23
, pp. 20961-20970
-
-
Puri, V.1
Jefferson, J.R.2
Singh, R.D.3
Wheatley, C.L.4
Marks, D.L.5
Pagano, R.E.6
-
53
-
-
0344849475
-
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5)
-
Rapola J., Lahdetie J., Isosomppi J., Helminen P., Penttinen M., Jarvela I. Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5). Prenat. Diagn. 1999, 19(7):685-688.
-
(1999)
Prenat. Diagn.
, vol.19
, Issue.7
, pp. 685-688
-
-
Rapola, J.1
Lahdetie, J.2
Isosomppi, J.3
Helminen, P.4
Penttinen, M.5
Jarvela, I.6
-
54
-
-
20044370505
-
High cholesterol level is essential for myelin membrane growth
-
Saher G., Brugger B., Lappe-Siefke C., Mobius W., Tozawa R., Wehr M.C., Wieland F., Ishibashi S., Nave K.A. High cholesterol level is essential for myelin membrane growth. Nat. Neurosci. 2005, 8(4):468-475.
-
(2005)
Nat. Neurosci.
, vol.8
, Issue.4
, pp. 468-475
-
-
Saher, G.1
Brugger, B.2
Lappe-Siefke, C.3
Mobius, W.4
Tozawa, R.5
Wehr, M.C.6
Wieland, F.7
Ishibashi, S.8
Nave, K.A.9
-
55
-
-
0023917534
-
Neuronal ceroid-lipofuscinoses in childhood
-
Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 1988, 10(2):80-83.
-
(1988)
Brain Dev.
, vol.10
, Issue.2
, pp. 80-83
-
-
Santavuori, P.1
-
56
-
-
0019964915
-
A variant of Jansky-Bielschowsky disease
-
Santavuori P., Rapola J., Sainio K., Raitta C. A variant of Jansky-Bielschowsky disease. Neuropediatrics 1982, 13(3):135-141.
-
(1982)
Neuropediatrics
, vol.13
, Issue.3
, pp. 135-141
-
-
Santavuori, P.1
Rapola, J.2
Sainio, K.3
Raitta, C.4
-
57
-
-
0025736263
-
The spectrum of Jansky-Bielschowsky disease
-
Santavuori P., Rapola J., Nuutila A., Raininko R., Lappi M., Launes J., Herva R., Sainio K. The spectrum of Jansky-Bielschowsky disease. Neuropediatrics 1991, 22(2):92-96.
-
(1991)
Neuropediatrics
, vol.22
, Issue.2
, pp. 92-96
-
-
Santavuori, P.1
Rapola, J.2
Nuutila, A.3
Raininko, R.4
Lappi, M.5
Launes, J.6
Herva, R.7
Sainio, K.8
-
58
-
-
77149164096
-
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations
-
Schmiedt M.L., Bessa C., Heine C., Ribeiro M.G., Jalanko A., Kyttala A. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. Hum. Mutat. 2010, 31(3):356-365.
-
(2010)
Hum. Mutat.
, vol.31
, Issue.3
, pp. 356-365
-
-
Schmiedt, M.L.1
Bessa, C.2
Heine, C.3
Ribeiro, M.G.4
Jalanko, A.5
Kyttala, A.6
-
59
-
-
77958510027
-
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
-
Sharifi A., Kousi M., Sagne C., Bellenchi G.C., Morel L., Darmon M., Hulkova H., Ruivo R., Debacker C., El Mestikawy S., et al. Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. Hum. Mol. Genet. 2010, 19(22):4497-4514.
-
(2010)
Hum. Mol. Genet.
, vol.19
, Issue.22
, pp. 4497-4514
-
-
Sharifi, A.1
Kousi, M.2
Sagne, C.3
Bellenchi, G.C.4
Morel, L.5
Darmon, M.6
Hulkova, H.7
Ruivo, R.8
Debacker, C.9
El Mestikawy, S.10
-
60
-
-
0034213250
-
Schwann cell remyelination is restricted to astrocyte-deficient areas after transplantation into demyelinated adult rat brain
-
Shields S.A., Blakemore W.F., Franklin R.J. Schwann cell remyelination is restricted to astrocyte-deficient areas after transplantation into demyelinated adult rat brain. J. Neurosci. Res. 2000, 60(5):571-578.
-
(2000)
J. Neurosci. Res.
, vol.60
, Issue.5
, pp. 571-578
-
-
Shields, S.A.1
Blakemore, W.F.2
Franklin, R.J.3
-
61
-
-
0031854980
-
Altered mitochondrial function in canine ceroid-lipofuscinosis
-
Siakotos A.N., Blair P.S., Savill J.D., Katz M.L. Altered mitochondrial function in canine ceroid-lipofuscinosis. Neurochem. Res. 1998, 23(7):983-989.
-
(1998)
Neurochem. Res.
, vol.23
, Issue.7
, pp. 983-989
-
-
Siakotos, A.N.1
Blair, P.S.2
Savill, J.D.3
Katz, M.L.4
-
62
-
-
33750984767
-
Molecular genetics of the NCLs - status and perspectives
-
Siintola E., Lehesjoki A.E., Mole S.E. Molecular genetics of the NCLs - status and perspectives. Biochim. Biophys. Acta 2006, 1762(10):857-864.
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, Issue.10
, pp. 857-864
-
-
Siintola, E.1
Lehesjoki, A.E.2
Mole, S.E.3
-
63
-
-
34347253609
-
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
-
Siintola E., Topcu M., Aula N., Lohi H., Minassian B.A., Paterson A.D., Liu X.Q., Wilson C., Lahtinen U., Anttonen A.K., et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am. J. Hum. Genet. 2007, 81(1):136-146.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, Issue.1
, pp. 136-146
-
-
Siintola, E.1
Topcu, M.2
Aula, N.3
Lohi, H.4
Minassian, B.A.5
Paterson, A.D.6
Liu, X.Q.7
Wilson, C.8
Lahtinen, U.9
Anttonen, A.K.10
-
64
-
-
13444305196
-
Endogenous Nkx2.2+/Olig2+ oligodendrocyte precursor cells fail to remyelinate the demyelinated adult rat spinal cord in the absence of astrocytes
-
Talbott J.F., Loy D.N., Liu Y., Qiu M.S., Bunge M.B., Rao M.S., Whittemore S.R. Endogenous Nkx2.2+/Olig2+ oligodendrocyte precursor cells fail to remyelinate the demyelinated adult rat spinal cord in the absence of astrocytes. Exp. Neurol. 2005, 192(1):11-24.
-
(2005)
Exp. Neurol.
, vol.192
, Issue.1
, pp. 11-24
-
-
Talbott, J.F.1
Loy, D.N.2
Liu, Y.3
Qiu, M.S.4
Bunge, M.B.5
Rao, M.S.6
Whittemore, S.R.7
-
65
-
-
0030722899
-
Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry
-
Tyynela J., Suopanki J., Santavuori P., Baumann M., Haltia M. Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry. J. Neuropathol. Exp. Neurol. 1997, 56(4):369-375.
-
(1997)
J. Neuropathol. Exp. Neurol.
, vol.56
, Issue.4
, pp. 369-375
-
-
Tyynela, J.1
Suopanki, J.2
Santavuori, P.3
Baumann, M.4
Haltia, M.5
-
66
-
-
0034037688
-
Human plasma phospholipid transfer protein increases the antiatherogenic potential of high density lipoproteins in transgenic mice
-
van Haperen R., van Tol A., Vermeulen P., Jauhiainen M., van Gent T., van den Berg P., Ehnholm S., Grosveld F., van der Kamp A., de Crom R. Human plasma phospholipid transfer protein increases the antiatherogenic potential of high density lipoproteins in transgenic mice. Arterioscler. Thromb. Vasc. Biol. 2000, 20(4):1082-1088.
-
(2000)
Arterioscler. Thromb. Vasc. Biol.
, vol.20
, Issue.4
, pp. 1082-1088
-
-
van Haperen, R.1
van Tol, A.2
Vermeulen, P.3
Jauhiainen, M.4
van Gent, T.5
van den Berg, P.6
Ehnholm, S.7
Grosveld, F.8
van der Kamp, A.9
de Crom, R.10
-
67
-
-
0036326358
-
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3
-
Vesa J., Chin M.H., Oelgeschlager K., Isosomppi J., DellAngelica E.C., Jalanko A., Peltonen L. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Mol. Biol. Cell 2002, 13(7):2410-2420.
-
(2002)
Mol. Biol. Cell
, vol.13
, Issue.7
, pp. 2410-2420
-
-
Vesa, J.1
Chin, M.H.2
Oelgeschlager, K.3
Isosomppi, J.4
DellAngelica, E.C.5
Jalanko, A.6
Peltonen, L.7
-
68
-
-
47149098948
-
A correlative light and electron microscopic study of postnatal myelination in the murine corpus callosum
-
Vincze A., Mazlo M., Seress L., Komoly S., Abraham H. A correlative light and electron microscopic study of postnatal myelination in the murine corpus callosum. Int. J. Dev. Neurosci. 2008, 26(6):575-584.
-
(2008)
Int. J. Dev. Neurosci.
, vol.26
, Issue.6
, pp. 575-584
-
-
Vincze, A.1
Mazlo, M.2
Seress, L.3
Komoly, S.4
Abraham, H.5
-
69
-
-
43449115394
-
Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases
-
von Schantz C., Saharinen J., Kopra O., Cooper J.D., Gentile M., Hovatta I., Peltonen L., Jalanko A. Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases. BMC Genomics 2008, 9:146.
-
(2008)
BMC Genomics
, vol.9
, pp. 146
-
-
von Schantz, C.1
Saharinen, J.2
Kopra, O.3
Cooper, J.D.4
Gentile, M.5
Hovatta, I.6
Peltonen, L.7
Jalanko, A.8
-
70
-
-
64649097377
-
Progressive thalamocortical neuron loss in Cln5 deficient mice: distinct effects in Finnish variant late infantile NCL
-
von Schantz C., Kielar C., Hansen S.N., Pontikis C.C., Alexander N.A., Kopra O., Jalanko A., Cooper J.D. Progressive thalamocortical neuron loss in Cln5 deficient mice: distinct effects in Finnish variant late infantile NCL. Neurobiol. Dis. 2009, 34(2):308-319.
-
(2009)
Neurobiol. Dis.
, vol.34
, Issue.2
, pp. 308-319
-
-
von Schantz, C.1
Kielar, C.2
Hansen, S.N.3
Pontikis, C.C.4
Alexander, N.A.5
Kopra, O.6
Jalanko, A.7
Cooper, J.D.8
-
71
-
-
0036682881
-
TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
-
Winter E., Ponting C.P. TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?. Trends Biochem. Sci. 2002, 27(8):381-383.
-
(2002)
Trends Biochem. Sci.
, vol.27
, Issue.8
, pp. 381-383
-
-
Winter, E.1
Ponting, C.P.2
-
72
-
-
38849148369
-
Discrete roles of apoA-I and apoE in the biogenesis of HDL species: lessons learned from gene transfer studies in different mouse models
-
Zannis V.I., Koukos G., Drosatos K., Vezeridis A., Zanni E.E., Kypreos K.E., Chroni A. Discrete roles of apoA-I and apoE in the biogenesis of HDL species: lessons learned from gene transfer studies in different mouse models. Ann. Med. 2008, 40(Suppl. 1):14-28.
-
(2008)
Ann. Med.
, vol.40
, Issue.SUPPL. 1
, pp. 14-28
-
-
Zannis, V.I.1
Koukos, G.2
Drosatos, K.3
Vezeridis, A.4
Zanni, E.E.5
Kypreos, K.E.6
Chroni, A.7
|