-
1
-
-
37249053783
-
The role of epidermal lipids in cutaneous permeability barrier homeostasis
-
DOI 10.1194/jlr.R700013-JLR200
-
K.R. Feingold Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis J. Lipid Res. 48 2007 2531 2546 (Pubitemid 350272838)
-
(2007)
Journal of Lipid Research
, vol.48
, Issue.12
, pp. 2531-2546
-
-
Feingold, K.R.1
-
3
-
-
0042121374
-
Barrier function of the skin: "La Raison d'Être" of the epidermis
-
DOI 10.1046/j.1523-1747.2003.12359.x
-
K.C. Madison Barrier function of the skin: "La Raison d'Etre" of the epidermis J. Invest. Dermatol. 121 2003 231 241 (Pubitemid 36969895)
-
(2003)
Journal of Investigative Dermatology
, vol.121
, Issue.2
, pp. 231-241
-
-
Madison, K.C.1
-
5
-
-
0036715005
-
Epithelial barrier function: Assembly and structural features of the cornified cell envelope
-
DOI 10.1002/bies.10144
-
A.E. Kalinin, A.V. Kajava, and P.M. Steinert Epithelial barrier function: assembly and structural features of the cornified cell envelope Bioessays 24 2002 789 800 (Pubitemid 35022184)
-
(2002)
BioEssays
, vol.24
, Issue.9
, pp. 789-800
-
-
Kalinin, A.E.1
Kajava, A.V.2
Steinert, P.M.3
-
6
-
-
17144371855
-
The cornified envelope: A model of cell death in the skin
-
DOI 10.1038/nrm1619
-
E. Candi, R. Schmidt, and G. Melino The cornified envelope: a model of cell death in the skin Nat. Rev. Mol. Cell Biol. 6 2005 328 340 (Pubitemid 40516899)
-
(2005)
Nature Reviews Molecular Cell Biology
, vol.6
, Issue.4
, pp. 328-340
-
-
Candi, E.1
Schmidt, R.2
Melino, G.3
-
7
-
-
0026649802
-
Epidermal lipids
-
P.W. Wertz Epidermal lipids Semin. Dermatol. 11 1992 106 113
-
(1992)
Semin. Dermatol.
, vol.11
, pp. 106-113
-
-
Wertz, P.W.1
-
8
-
-
66349097798
-
The outer frontier: The importance of lipid metabolism in the skin
-
K.R. Feingold The outer frontier: the importance of lipid metabolism in the skin J. Lipid Res. 50 Suppl. 2009 417 422
-
(2009)
J. Lipid Res.
, vol.50
, Issue.SUPPL.
, pp. 417-422
-
-
Feingold, K.R.1
-
10
-
-
0021242315
-
Sphingolipids of the stratum corneum and lamellar granules of fetal rat epidermis
-
P.W. Wertz, D.T. Downing, R.K. Freinkel, and T.N. Traczyk Sphingolipids of the stratum corneum and lamellar granules of fetal rat epidermis J. Invest. Dermatol. 83 1984 193 195 (Pubitemid 14063907)
-
(1984)
Journal of Investigative Dermatology
, vol.83
, Issue.3
, pp. 193-195
-
-
Wertz, P.W.1
Downing, D.T.2
Freinkel, R.K.3
Traczyk, T.N.4
-
11
-
-
0025941838
-
Structure and function of lamellar bodies, lipid-protein complexes involved in storage and secretion of cellular lipids
-
G. Schmitz, and G. Müller Structure and function of lamellar bodies, lipid-protein complexes involved in storage and secretion of cellular lipids J. Lipid Res. 32 1991 1539 1570
-
(1991)
J. Lipid Res.
, vol.32
, pp. 1539-1570
-
-
Schmitz, G.1
Müller, G.2
-
12
-
-
0021823767
-
Lipid composition and acid hydrolase content of lamellar granules of fetal rat epidermis
-
R.K. Freinkel, and T.N. Traczyk Lipid composition and acid hydrolase content of lamellar granules of fetal rat epidermis J. Invest. Dermatol. 85 1985 295 298 (Pubitemid 15248011)
-
(1985)
Journal of Investigative Dermatology
, vol.85
, Issue.4
, pp. 295-298
-
-
Freinkel, R.K.1
Traczyk, T.N.2
-
13
-
-
0021784419
-
Lamellar body-enriched fractions from neonatal mice: Preparative techniques and partial characterization
-
S. Grayson, A.G. Johnson-Winegar, B.U. Wintroub, R.R. Isseroff, E.H. Epstein, and P.M. Elias Lamellar body-enriched fractions from neonatal mice: preparative techniques and partial characterization J. Invest. Dermatol. 85 1985 289 294 (Pubitemid 15248010)
-
(1985)
Journal of Investigative Dermatology
, vol.85
, Issue.4
, pp. 289-294
-
-
Grayson, S.1
Johnson-Winegar, A.G.2
Wintroub, B.U.3
-
14
-
-
0013942180
-
Jordans' anomaly in white blood cells. Report of case
-
L. Rozenszajn, A. Klajman, D. Yaffe, and P. Efrati Jordans' anomaly in white blood cells. Report of case Blood 28 1966 258 265
-
(1966)
Blood
, vol.28
, pp. 258-265
-
-
Rozenszajn, L.1
Klajman, A.2
Yaffe, D.3
Efrati, P.4
-
16
-
-
0016612085
-
Neutral-lipid storage disease: A new disorder of lipid metabolism
-
I. Chanarin, A. Patel, G. Slavin, E.J. Wills, T.M. Andrews, and G. Stewart Neutral-lipid storage disease: a new disorder of lipid metabolism Br. Med. J. 1 1975 553 555
-
(1975)
Br. Med. J.
, vol.1
, pp. 553-555
-
-
Chanarin, I.1
Patel, A.2
Slavin, G.3
Wills, E.J.4
Andrews, T.M.5
Stewart, G.6
-
17
-
-
0000798265
-
The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB)
-
G.H. Jordans The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB) Acta Med. Scand. 145 1953 419 423
-
(1953)
Acta Med. Scand.
, vol.145
, pp. 419-423
-
-
Jordans, G.H.1
-
19
-
-
68049092870
-
Neutral lipid storage disease: Genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5
-
M. Schweiger, A. Lass, R. Zimmermann, T.O. Eichmann, and R. Zechner Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5 Am. J. Physiol. Endocrinol. Metab. 297 2009 289 296
-
(2009)
Am. J. Physiol. Endocrinol. Metab.
, vol.297
, pp. 289-296
-
-
Schweiger, M.1
Lass, A.2
Zimmermann, R.3
Eichmann, T.O.4
Zechner, R.5
-
20
-
-
0034764272
-
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
-
DOI 10.1086/324121
-
C. Lefèvre, F. Jobard, F. Caux, B. Bouadjar, A. Karaduman, R. Heilig, H. Lakhdar, A. Wollenberg, J.L. Verret, J. Weissenbach, M. Ozgüc, M. Lathrop, J.F. Prud'homme, and J. Fischer Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome Am. J. Hum. Genet. 69 2001 1002 1012 (Pubitemid 33015815)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.5
, pp. 1002-1012
-
-
Lefevre, C.1
Jobard, F.2
Caux, F.3
Bouadjar, B.4
Karaduman, A.5
Heilig, R.6
Lakhdar, H.7
Wollenberg, A.8
Verret, J.-L.9
Weissenbach, J.10
Ozguc, M.11
Lathrop, M.12
Prud'homme, J.-F.13
Fischer, J.14
-
21
-
-
33845900676
-
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
-
DOI 10.1038/ng1951, PII NG1951
-
J. Fischer, C. Lefèvre, E. Morava, J.-M. Mussini, P. Laforêt, A. Negre-Salvayre, M. Lathrop, and R. Salvayre The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy Nat. Genet. 39 2007 28 30 (Pubitemid 46026498)
-
(2007)
Nature Genetics
, vol.39
, Issue.1
, pp. 28-30
-
-
Fischer, J.1
Lefevre, C.2
Morava, E.3
Mussini, J.-M.4
Lafort, P.5
Negre-Salvayre, A.6
Lathrop, M.7
Salvayre, R.8
-
22
-
-
67349265779
-
Chanarin-Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase
-
T. Yamaguchi, and T. Osumi Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase Biochim. Biophys. Acta 1791 2009 519 523
-
(2009)
Biochim. Biophys. Acta
, vol.1791
, pp. 519-523
-
-
Yamaguchi, T.1
Osumi, T.2
-
23
-
-
78651408374
-
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: First report of large deletions in the ABHD5 gene
-
C. Redaelli, R.A. Coleman, L. Moro, C. Dacou-Voutetakis, S.M. Elsayed, D. Prati, A. Colli, D. Mela, R. Colombo, and D. Tavian Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene Orphanet J. Rare Dis. 5 2010 33
-
(2010)
Orphanet J. Rare Dis.
, vol.5
, pp. 33
-
-
Redaelli, C.1
Coleman, R.A.2
Moro, L.3
Dacou-Voutetakis, C.4
Elsayed, S.M.5
Prati, D.6
Colli, A.7
Mela, D.8
Colombo, R.9
Tavian, D.10
-
24
-
-
79957607882
-
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family
-
L. Samuelov, D. Fuchs-Telem, O. Sarig, and E. Sprecher An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family Br. J. Dermatol. 164 2011 1390 1392
-
(2011)
Br. J. Dermatol.
, vol.164
, pp. 1390-1392
-
-
Samuelov, L.1
Fuchs-Telem, D.2
Sarig, O.3
Sprecher, E.4
-
25
-
-
0034029917
-
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics
-
DOI 10.1101/gr.10.5.703
-
C.H. Lai, C.Y. Chou, L.Y. Ch'ang, C.S. Liu, and W. Lin Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics Genome Res. 10 2000 703 713 (Pubitemid 30333199)
-
(2000)
Genome Research
, vol.10
, Issue.5
, pp. 703-713
-
-
Lai, C.-H.1
Chou, C.-Y.2
Ch'ang, L.-Y.3
Liu, C.-S.4
Lin, W.-C.5
-
26
-
-
33646128723
-
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome
-
A. Lass, R. Zimmermann, G. Haemmerle, M. Riederer, G. Schoiswohl, M. Schweiger, P. Kienesberger, J.G. Strauss, G. Gorkiewicz, and R. Zechner Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome Cell Metab. 3 2006 309 319
-
(2006)
Cell Metab.
, vol.3
, pp. 309-319
-
-
Lass, A.1
Zimmermann, R.2
Haemmerle, G.3
Riederer, M.4
Schoiswohl, G.5
Schweiger, M.6
Kienesberger, P.7
Strauss, J.G.8
Gorkiewicz, G.9
Zechner, R.10
-
27
-
-
4744341229
-
Perilipin A mediates the reversible binding of CGI-58 to lipid droplets in 3T3-L1 adipocytes
-
DOI 10.1074/jbc.M407462200
-
V. Subramanian, A. Rothenberg, C. Gomez, A.W. Cohen, A. Garcia, S. Bhattacharyya, L. Shapiro, G. Dolios, R. Wang, M.P. Lisanti, and D.L. Brasaemle Perilipin A mediates the reversible binding of CGI-58 to lipid droplets in 3 T3-L1 adipocytes J. Biol. Chem. 279 2004 42062 42071 (Pubitemid 39313657)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.40
, pp. 42062-42071
-
-
Subramanian, V.1
Rotlienberg, A.2
Gomez, C.3
Cohen, A.W.4
Garcia, A.5
Bhattacharyya, S.6
Shapiro, L.7
Dolios, G.8
Wang, R.9
Lisanti, M.P.10
Brasaemle, D.L.11
-
28
-
-
0032411227
-
Functional analysis of the Escherichia coli genome for members of the α/β hydrolase family
-
DOI 10.1016/S1359-0278(98)00069-8
-
L. Zhang, A. Godzik, J. Skolnick, and J.S. Fetrow Functional analysis of the Escherichia coli genome for members of the alpha/beta hydrolase family Fold. Des. 3 1998 535 548 (Pubitemid 29023618)
-
(1998)
Folding and Design
, vol.3
, Issue.6
, pp. 535-548
-
-
Zhang, L.1
Godzik, A.2
Skolnick, J.3
Fetrow, J.S.4
-
29
-
-
79957890922
-
Recent insights into the structure and function of comparative gene identification-58
-
M. Oberer, A. Boeszoermenyi, H.M. Nagy, and R. Zechner Recent insights into the structure and function of comparative gene identification-58 Curr. Opin. Lipidol. 22 2011 149 158
-
(2011)
Curr. Opin. Lipidol.
, vol.22
, pp. 149-158
-
-
Oberer, M.1
Boeszoermenyi, A.2
Nagy, H.M.3
Zechner, R.4
-
30
-
-
34248189053
-
CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation
-
DOI 10.1194/jlr.M600493-JLR200
-
T. Yamaguchi, N. Omatsu, E. Morimoto, H. Nakashima, K. Ueno, T. Tanaka, K. Satouchi, F. Hirose, and T. Osumi CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation J. Lipid Res. 48 2007 1078 1089 (Pubitemid 46708675)
-
(2007)
Journal of Lipid Research
, vol.48
, Issue.5
, pp. 1078-1089
-
-
Yamaguchi, T.1
Omatsu, N.2
Morimoto, E.3
Nakashima, H.4
Ueno, K.5
Tanaka, T.6
Satouchi, K.7
Hirose, F.8
Osumi, T.9
-
31
-
-
0016719263
-
Morphological features in a neutral lipid storage disease
-
G. Slavin, E.J. Wills, J.E. Richmond, I. Chanarin, T. Andrews, and G. Stewart Morphological features in a neutral lipid storage disease J. Clin. Pathol. 28 1975 701 710
-
(1975)
J. Clin. Pathol.
, vol.28
, pp. 701-710
-
-
Slavin, G.1
Wills, E.J.2
Richmond, J.E.3
Chanarin, I.4
Andrews, T.5
Stewart, G.6
-
32
-
-
0018413628
-
Lipid storage myopathy, ichthyosis, and steatorrhea
-
A. Miranda, S. DiMauro, A. Eastwood, A. Hays, W.G. Johnson, M. Olarte, R. Whitlock, R. Mayeux, and L.P. Rowland Lipid storage myopathy, ichthyosis, and steatorrhea Muscle Nerve 2 1975 1 13 (Pubitemid 9140411)
-
(1979)
Muscle and Nerve
, vol.2
, Issue.1
, pp. 1-13
-
-
Miranda, A.1
DiMauro, S.2
Eastwood, A.3
-
33
-
-
0023679225
-
Neutral lipid storage disease with ichthyosis: Lipid content and metabolism of fibroblasts
-
M.L. Williams, D.J. Monger, S.L. Rutherford, M. Hincenbergs, S.J. Rehfeld, and C. Grunfeld Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts J. Inherit. Metab. Dis. 11 1988 131 143
-
(1988)
J. Inherit. Metab. Dis.
, vol.11
, pp. 131-143
-
-
Williams, M.L.1
Monger, D.J.2
Rutherford, S.L.3
Hincenbergs, M.4
Rehfeld, S.J.5
Grunfeld, C.6
-
34
-
-
0023243623
-
Metabolism of 1-pyrenedecanoic acid and accumulation of neutral fluorescent lipids in cultured fibroblasts of multisystemic lipid storage myopathy
-
DOI 10.1016/0005-2760(87)90252-9
-
J. Radom, R. Salvayre, A. Maret, A. Nègre, and L. Douste-Blazy Metabolism of 1-pyrenedecanoic acid and accumulation of neutral fluorescent lipids in cultured fibroblasts of multisystemic lipid storage myopathy Biochim. Biophys. Acta 920 1987 131 139 (Pubitemid 17100935)
-
(1987)
Biochimica et Biophysica Acta - Lipids and Lipid Metabolism
, vol.920
, Issue.2
, pp. 131-139
-
-
Radom, J.1
Salvayre, R.2
Maret, A.3
-
35
-
-
0023176837
-
Metabolism of neutral lipids in cultured fibroblasts from multisystemic (or type 3) lipid storage myopathy
-
DOI 10.1111/j.1432-1033.1987.tb11183.x
-
J. Radom, R. Salvayre, A. Negre, A. Maret, and L. Douste-Blazy Metabolism of neutral lipids in cultured fibroblasts from multisystemic (or type 3) lipid storage myopathy Eur. J. Biochem. 164 1987 703 708 (Pubitemid 17072827)
-
(1987)
European Journal of Biochemistry
, vol.164
, Issue.3
, pp. 703-708
-
-
Radom, J.1
Salvayre, R.2
Negre, A.3
-
36
-
-
0023854107
-
Biochemical and ultrastructural features of human fibroblasts cultured from a new variant of type 3 lipid storage myopathy
-
J. Radom, R. Salvayre, J.M. Mussini, B. De Lisle, A. Negre, A. Maret, S. Billaudel, and L. Douste-Blazy Biochemical and ultrastructural features of human fibroblasts cultured from a new variant of type 3 lipid storage myopathy Biol. Cell 62 1988 39 45 (Pubitemid 18073243)
-
(1988)
Biology of the Cell
, vol.62
, Issue.1
, pp. 39-45
-
-
Radom, J.1
Salvayre, R.2
Mussini, J.-M.3
De Lisle, B.4
Negre, A.5
Maret, A.6
Billaudel, S.7
Douste-Blazy, L.8
-
37
-
-
0024397709
-
Metabolism of pyrenedecanoic acid in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and from a patient with multisystemic lipid storage myopathy
-
DOI 10.1016/0005-2760(89)90178-1
-
J. Radom, R. Salvayre, A. Negre, and L. Douste-Blazy Metabolism of pyrenedecanoic acid in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and from a patient with multisystemic lipid storage myopathy Biochim. Biophys. Acta 1005 1989 130 136 (Pubitemid 19224678)
-
(1989)
Biochimica et Biophysica Acta - Lipids and Lipid Metabolism
, vol.1005
, Issue.2
, pp. 130-136
-
-
Random, J.1
Salvayre, R.2
Negre, A.3
Douste-Blazy, L.4
-
38
-
-
0024407343
-
Independence of triacylglycerol-containing compartments in cultured fibroblasts from Wolman disease and multisystemic lipid storage myopathy
-
DOI 10.1016/0014-5793(89)80679-9
-
R. Salvayre, A. Nègre, J. Radom, and L. Douste-Blazy Independence of triacylglycerol-containing compartments in cultured fibroblasts from Wolman disease and multisystemic lipid storage myopathy FEBS Lett. 250 1989 35 39 (Pubitemid 19154175)
-
(1989)
FEBS Letters
, vol.250
, Issue.1
, pp. 35-39
-
-
Salvayre, R.1
Negre, A.2
Radom, J.3
Douste-Blazy, L.4
-
39
-
-
0028834525
-
The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chain length-dependent degradation pathways
-
N. Hilaire, R. Salvayre, J.C. Thiers, M.J. Bonnafé, and A. Nègre-Salvayre The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chain length-dependent degradation pathways J. Biol. Chem. 270 1995 27027 27034
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 27027-27034
-
-
Hilaire, N.1
Salvayre, R.2
Thiers, J.C.3
Bonnafé, M.J.4
Nègre-Salvayre, A.5
-
40
-
-
0025967453
-
Neutral lipid storage disease: A possible functional defect in phospholipid-linked triacylglycerol metabolism
-
M.L. Williams, R.A. Coleman, D. Placezk, and C. Grunfeld Neutral lipid storage disease: a possible functional defect in phospholipid-linked triacylglycerol metabolism Biochim. Biophys. Acta 1096 1991 162 169
-
(1991)
Biochim. Biophys. Acta
, vol.1096
, pp. 162-169
-
-
Williams, M.L.1
Coleman, R.A.2
Placezk, D.3
Grunfeld, C.4
-
41
-
-
8944256087
-
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts
-
DOI 10.1074/jbc.271.28.16644
-
R.A. Igal, and R.A. Coleman Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts J. Biol. Chem. 271 1996 16644 16651 (Pubitemid 26239023)
-
(1996)
Journal of Biological Chemistry
, vol.271
, Issue.28
, pp. 16644-16651
-
-
Ariel Igal, R.1
Coleman, R.A.2
-
42
-
-
0031883290
-
Neutral lipid storage disease: A genetic disorder with abnormalities in the regulation of phospholipid metabolism
-
R.A. Igal, and R.A. Coleman Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism J. Lipid Res. 39 1998 31 43 (Pubitemid 28063540)
-
(1998)
Journal of Lipid Research
, vol.39
, Issue.1
, pp. 31-43
-
-
Igal, R.A.1
Coleman, R.A.2
-
43
-
-
78650107057
-
Lipolysis - A highly regulated multi-enzyme complex mediates the catabolism of cellular fat stores
-
A. Lass, R. Zimmermann, M. Oberer, and R. Zechner Lipolysis - a highly regulated multi-enzyme complex mediates the catabolism of cellular fat stores Prog. Lipid Res. 50 2011 14 27
-
(2011)
Prog. Lipid Res.
, vol.50
, pp. 14-27
-
-
Lass, A.1
Zimmermann, R.2
Oberer, M.3
Zechner, R.4
-
44
-
-
84858020291
-
FAT SIGNALS - Lipases and lipolysis in lipid metabolism and signaling
-
R. Zechner, R. Zimmermann, T.O. Eichmann, S.D. Kohlwein, G. Haemmerle, A. Lass, and F. Madeo FAT SIGNALS - lipases and lipolysis in lipid metabolism and signaling Cell Metab. 15 2012 279 291
-
(2012)
Cell Metab.
, vol.15
, pp. 279-291
-
-
Zechner, R.1
Zimmermann, R.2
Eichmann, T.O.3
Kohlwein, S.D.4
Haemmerle, G.5
Lass, A.6
Madeo, F.7
-
45
-
-
84859631366
-
Adipocyte lipases and lipid droplet-associated proteins: Insight from transgenic mouse models
-
A. Girousse, and D. Langin Adipocyte lipases and lipid droplet-associated proteins: insight from transgenic mouse models Int. J. Obes. (Lond.) 36 2012 581 594
-
(2012)
Int. J. Obes. (Lond.)
, vol.36
, pp. 581-594
-
-
Girousse, A.1
Langin, D.2
-
46
-
-
84874900503
-
Biochemistry and pathophysiology of intravascular and intracellular lipolysis
-
S.G. Young, and R. Zechner Biochemistry and pathophysiology of intravascular and intracellular lipolysis Genes Dev. 27 2013 459 484
-
(2013)
Genes Dev.
, vol.27
, pp. 459-484
-
-
Young, S.G.1
Zechner, R.2
-
47
-
-
8844226709
-
Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase
-
DOI 10.1126/science.1100747
-
R. Zimmermann, J.G. Strauss, G. Haemmerle, G. Schoiswohl, R. Birner-Gruenberger, M. Riederer, A. Lass, G. Neuberger, F. Eisenhaber, A. Hermetter, and R. Zechner Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase Science 306 2004 1383 1386 (Pubitemid 39532517)
-
(2004)
Science
, vol.306
, Issue.5700
, pp. 1383-1386
-
-
Zimmermann, R.1
Strauss, J.G.2
Haemmerle, G.3
Schoiswohl, G.4
Birner-Gruenberger, R.5
Riederer, M.6
Lass, A.7
Neuberger, G.8
Eisenhaber, F.9
Hermetter, A.10
Zechner, R.11
-
48
-
-
33646462136
-
Defective lipolysis and altered energy metabolism in mice lacking adipose triglyceride lipase
-
G. Haemmerle, A. Lass, R. Zimmermann, G. Gorkiewicz, C. Meyer, J. Rozman, G. Heldmaier, R. Maier, C. Theussl, S. Eder, D. Kratky, E.F. Wagner, M. Klingenspor, G. Hoefler, and R. Zechner Defective lipolysis and altered energy metabolism in mice lacking adipose triglyceride lipase Science 312 2006 734 737
-
(2006)
Science
, vol.312
, pp. 734-737
-
-
Haemmerle, G.1
Lass, A.2
Zimmermann, R.3
Gorkiewicz, G.4
Meyer, C.5
Rozman, J.6
Heldmaier, G.7
Maier, R.8
Theussl, C.9
Eder, S.10
Kratky, D.11
Wagner, E.F.12
Klingenspor, M.13
Hoefler, G.14
Zechner, R.15
-
49
-
-
84870372459
-
Studies on the substrate and stereo/regioselectivity of adipose triglyceride lipase, hormone-sensitive lipase, and diacylglycerol-O- acyltransferases
-
T.O. Eichmann, M. Kumari, J.T. Haas, R.V. Farese, R. Zimmermann, A. Lass, and R. Zechner Studies on the substrate and stereo/regioselectivity of adipose triglyceride lipase, hormone-sensitive lipase, and diacylglycerol-O- acyltransferases J. Biol. Chem. 287 2012 41446 41457
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 41446-41457
-
-
Eichmann, T.O.1
Kumari, M.2
Haas, J.T.3
Farese, R.V.4
Zimmermann, R.5
Lass, A.6
Zechner, R.7
-
50
-
-
78651164698
-
Hormone-sensitive lipase and monoglyceride lipase activities in adipose tissue
-
M. Vaughan, J.E. Berger, and D. Steinberg Hormone-sensitive lipase and monoglyceride lipase activities in adipose tissue J. Biol. Chem. 239 1964 401 409
-
(1964)
J. Biol. Chem.
, vol.239
, pp. 401-409
-
-
Vaughan, M.1
Berger, J.E.2
Steinberg, D.3
-
51
-
-
0037085450
-
Hormone-sensitive lipase deficiency in mice causes diglyceride accumulation in adipose tissue, muscle, and testis
-
DOI 10.1074/jbc.M110355200
-
G. Haemmerle, R. Zimmermann, M. Hayn, C. Theussl, G. Waeg, E. Wagner, W. Sattler, T.M. Magin, E.F. Wagner, and R. Zechner Hormone-sensitive lipase deficiency in mice causes diglyceride accumulation in adipose tissue, muscle, and testis J. Biol. Chem. 277 2002 4806 4815 (Pubitemid 34968514)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.7
, pp. 4806-4815
-
-
Haemmerle, G.1
Zimmermann, R.2
Hayn, M.3
Theussl, C.4
Waeg, G.5
Wagner, E.6
Sattler, W.7
Magin, T.M.8
Wagner, E.F.9
Zechner, R.10
-
52
-
-
0017295234
-
Purification and some properties of a monoacylglycerol-hydrolyzing enzyme of rat adipose tissue
-
H. Tornqvist, and P. Belfrage Purification and some properties of a monoacylglycerol-hydrolyzing enzyme of rat adipose tissue J. Biol. Chem. 251 1975 813 819
-
(1975)
J. Biol. Chem.
, vol.251
, pp. 813-819
-
-
Tornqvist, H.1
Belfrage, P.2
-
53
-
-
79955958008
-
Monoglyceride lipase deficiency in mice impairs lipolysis and attenuates diet-induced insulin resistance
-
U. Taschler, F.P.W. Radner, C. Heier, R. Schreiber, M. Schweiger, G. Schoiswohl, K. Preiss-Landl, D. Jaeger, B. Reiter, H.C. Koefeler, J. Wojciechowski, C. Theussl, J.M. Penninger, A. Lass, G. Haemmerle, R. Zechner, and R. Zimmermann Monoglyceride lipase deficiency in mice impairs lipolysis and attenuates diet-induced insulin resistance J. Biol. Chem. 286 2011 17467 17477
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 17467-17477
-
-
Taschler, U.1
Radner, F.P.W.2
Heier, C.3
Schreiber, R.4
Schweiger, M.5
Schoiswohl, G.6
Preiss-Landl, K.7
Jaeger, D.8
Reiter, B.9
Koefeler, H.C.10
Wojciechowski, J.11
Theussl, C.12
Penninger, J.M.13
Lass, A.14
Haemmerle, G.15
Zechner, R.16
Zimmermann, R.17
-
54
-
-
3142738035
-
CGI-58 interacts with perilipin and is localized to lipid droplets: Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome
-
DOI 10.1074/jbc.M403920200
-
T. Yamaguchi, N. Omatsu, S. Matsushita, and T. Osumi CGI-58 interacts with perilipin and is localized to lipid droplets Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome J. Biol. Chem. 279 2004 30490 30497 (Pubitemid 38937979)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.29
, pp. 30490-30497
-
-
Yamaguchi, T.1
Omatsu, N.2
Matsushita, S.3
Osumi, T.4
-
55
-
-
77951212321
-
Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58)
-
F.P.W. Radner, I.E. Streith, G. Schoiswohl, M. Schweiger, M. Kumari, T.O. Eichmann, G. Rechberger, H.C. Koefeler, S. Eder, S. Schauer, H.C. Theussl, K. Preiss-Landl, A. Lass, R. Zimmermann, G. Hoefler, R. Zechner, and G. Haemmerle Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58) J. Biol. Chem. 285 2010 7300 7311
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 7300-7311
-
-
Radner, F.P.W.1
Streith, I.E.2
Schoiswohl, G.3
Schweiger, M.4
Kumari, M.5
Eichmann, T.O.6
Rechberger, G.7
Koefeler, H.C.8
Eder, S.9
Schauer, S.10
Theussl, H.C.11
Preiss-Landl, K.12
Lass, A.13
Zimmermann, R.14
Hoefler, G.15
Zechner, R.16
Haemmerle, G.17
-
56
-
-
77956877504
-
Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome
-
Y. Uchida, Y. Cho, S. Moradian, J. Kim, K. Nakajima, D. Crumrine, K. Park, M. Ujihara, M. Akiyama, H. Shimizu, W.M. Holleran, S. Sano, and P.M. Elias Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome J. Invest. Dermatol. 130 2010 2497 2499
-
(2010)
J. Invest. Dermatol.
, vol.130
, pp. 2497-2499
-
-
Uchida, Y.1
Cho, Y.2
Moradian, S.3
Kim, J.4
Nakajima, K.5
Crumrine, D.6
Park, K.7
Ujihara, M.8
Akiyama, M.9
Shimizu, H.10
Holleran, W.M.11
Sano, S.12
Elias, P.M.13
-
57
-
-
0242490136
-
Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome
-
DOI 10.1046/j.1523-1747.2003.12520.x
-
M. Akiyama, D. Sawamura, Y. Nomura, M. Sugawara, and H. Shimizu Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome J. Invest. Dermatol. 121 2003 1029 1034 (Pubitemid 37430969)
-
(2003)
Journal of Investigative Dermatology
, vol.121
, Issue.5
, pp. 1029-1034
-
-
Akiyama, M.1
Sawamura, D.2
Nomura, Y.3
Sugawara, M.4
Shimizu, H.5
-
58
-
-
34547922419
-
A novel S115G mutation of CGI-58 in a Turkish patient with dorfman-chanarin syndrome [3]
-
DOI 10.1038/sj.jid.5700860, PII 5700860
-
Z. Ben Selma, S. Yilmaz, P.O. Schischmanoff, A. Blom, C. Ozogul, L. Laroche, and F. Caux A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome J. Invest. Dermatol. 127 2007 2273 2276 (Pubitemid 47258497)
-
(2007)
Journal of Investigative Dermatology
, vol.127
, Issue.9
, pp. 2273-2276
-
-
Selma, Z.B.1
Yilmaz, S.2
Schischmanoff, P.O.3
Blom, A.4
Ozogul, C.5
Laroche, L.6
Caux, F.7
-
59
-
-
0021806009
-
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion
-
DOI 10.1001/archderm.121.8.1000
-
P.M. Elias, and M.L. Williams Neutral lipid storage disease with ichthyosis Defective lamellar body contents and intracellular dispersion Arch. Dermatol. 121 1985 1000 1008 (Pubitemid 15014938)
-
(1985)
Archives of Dermatology
, vol.121
, Issue.8
, pp. 1000-1008
-
-
Elias, P.M.1
Williams, M.L.2
-
60
-
-
33747332788
-
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome)
-
M. Demerjian, D. a Crumrine, L.M. Milstone, M.L. Williams, and P.M. Elias Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome) J. Invest. Dermatol. 126 2006 2032 2038
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 2032-2038
-
-
Demerjian, M.1
Crumrine, D.A.2
Milstone, L.M.3
Williams, M.L.4
Elias, P.M.5
-
61
-
-
74749109402
-
Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome
-
M. Ujihara, K. Nakajima, M. Yamamoto, M. Teraishi, Y. Uchida, M. Akiyama, H. Shimizu, and S. Sano Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome J. Dermatol. Sci. 57 2010 102 107
-
(2010)
J. Dermatol. Sci.
, vol.57
, pp. 102-107
-
-
Ujihara, M.1
Nakajima, K.2
Yamamoto, M.3
Teraishi, M.4
Uchida, Y.5
Akiyama, M.6
Shimizu, H.7
Sano, S.8
-
62
-
-
66149155333
-
Autosomal recessive congenital ichthyosis
-
J. Fischer Autosomal recessive congenital ichthyosis J. Invest. Dermatol. 129 2009 1319 1321
-
(2009)
J. Invest. Dermatol.
, vol.129
, pp. 1319-1321
-
-
Fischer, J.1
-
63
-
-
84884417429
-
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length
-
K.-M. Eckl, R. Tidhar, H. Thiele, V. Oji, I. Hausser, S. Brodesser, M.-L. Preil, A. Onal-Akan, F. Stock, D. Müller, K. Becker, R. Casper, G. Nürnberg, J. Altmüller, P. Nürnberg, H. Traupe, A.H. Futerman, and H.C. Hennies Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length J. Invest. Dermatol. 2013 1 10
-
(2013)
J. Invest. Dermatol.
, pp. 1-10
-
-
Eckl, K.-M.1
Tidhar, R.2
Thiele, H.3
Oji, V.4
Hausser, I.5
Brodesser, S.6
Preil, M.-L.7
Onal-Akan, A.8
Stock, F.9
Müller, D.10
Becker, K.11
Casper, R.12
Nürnberg, G.13
Altmüller, J.14
Nürnberg, P.15
Traupe, H.16
Futerman, A.H.17
Hennies, H.C.18
-
64
-
-
84879632820
-
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans
-
F.P.W. Radner, S. Marrakchi, P. Kirchmeier, G.-J. Kim, F. Ribierre, B. Kamoun, L. Abid, M. Leipoldt, H. Turki, W. Schempp, R. Heilig, M. Lathrop, and J. Fischer Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans PLoS Genet. 9 2013 e1003536
-
(2013)
PLoS Genet.
, vol.9
, pp. 1003536
-
-
Radner, F.P.W.1
Marrakchi, S.2
Kirchmeier, P.3
Kim, G.-J.4
Ribierre, F.5
Kamoun, B.6
Abid, L.7
Leipoldt, M.8
Turki, H.9
Schempp, W.10
Heilig, R.11
Lathrop, M.12
Fischer, J.13
-
65
-
-
34247176651
-
12R-lipoxygenase deficiency disrupts epidermal barrier function
-
DOI 10.1083/jcb.200612116
-
N. Epp, G. Fürstenberger, K. Müller, S. de Juanes, M. Leitges, I. Hausser, F. Thieme, G. Liebisch, G. Schmitz, and P. Krieg 12R-lipoxygenase deficiency disrupts epidermal barrier function J. Cell Biol. 177 2007 173 182 (Pubitemid 46588410)
-
(2007)
Journal of Cell Biology
, vol.177
, Issue.1
, pp. 173-182
-
-
Epp, N.1
Furstenberger, G.2
Muller, K.3
De Juanes, S.4
Leitges, M.5
Hausser, I.6
Thieme, F.7
Liebisch, G.8
Schmitz, G.9
Krieg, P.10
-
66
-
-
52949098786
-
Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects
-
T. Yanagi, M. Akiyama, H. Nishihara, K. Sakai, W. Nishie, S. Tanaka, and H. Shimizu Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects Hum. Mol. Genet. 17 2008 3075 3083
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3075-3083
-
-
Yanagi, T.1
Akiyama, M.2
Nishihara, H.3
Sakai, K.4
Nishie, W.5
Tanaka, S.6
Shimizu, H.7
-
67
-
-
52949090042
-
A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis
-
I. Smyth, D.F. Hacking, A. a Hilton, N. Mukhamedova, P.J. Meikle, S. Ellis, K. Satterley, K. Slattery, J.E. Collinge, C. a de Graaf, M. Bahlo, D. Sviridov, B.T. Kile, and D.J. Hilton A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis PLoS Genet. 4 2008 e1000192
-
(2008)
PLoS Genet.
, vol.4
, pp. 1000192
-
-
Smyth, I.1
Hacking, D.F.2
Hilton, A.A.3
Mukhamedova, N.4
Meikle, P.J.5
Ellis, S.6
Satterley, K.7
Slattery, K.8
Collinge, J.E.9
De Graaf, C.A.10
Bahlo, M.11
Sviridov, D.12
Kile, B.T.13
Hilton, D.J.14
-
68
-
-
84857646583
-
Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice
-
N. Nakagawa, M. Yamamoto, Y. Imai, Y. Sakaguchi, T. Takizawa, N. Ohta, N. Yagi, I. Hatta, K. Hitomi, T. Takizawa, J. Takeda, T. Tsuda, M. Matsuki, and K. Yamanishi Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice J. Dermatol. Sci. 65 2012 196 206
-
(2012)
J. Dermatol. Sci.
, vol.65
, pp. 196-206
-
-
Nakagawa, N.1
Yamamoto, M.2
Imai, Y.3
Sakaguchi, Y.4
Takizawa, T.5
Ohta, N.6
Yagi, N.7
Hatta, I.8
Hitomi, K.9
Takizawa, T.10
Takeda, J.11
Tsuda, T.12
Matsuki, M.13
Yamanishi, K.14
-
69
-
-
84855916623
-
Loss of ceramide synthase 3 causes lethal skin barrier disruption
-
R. Jennemann, M. Rabionet, K. Gorgas, S. Epstein, A. Dalpke, U. Rothermel, A. Bayerle, F. van der Hoeven, S. Imgrund, J. Kirsch, W. Nickel, K. Willecke, H. Riezman, H.-J. Gröne, and R. Sandhoff Loss of ceramide synthase 3 causes lethal skin barrier disruption Hum. Mol. Genet. 21 2012 586 608
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 586-608
-
-
Jennemann, R.1
Rabionet, M.2
Gorgas, K.3
Epstein, S.4
Dalpke, A.5
Rothermel, U.6
Bayerle, A.7
Van Der Hoeven, F.8
Imgrund, S.9
Kirsch, J.10
Nickel, W.11
Willecke, K.12
Riezman, H.13
Gröne, H.-J.14
Sandhoff, R.15
-
70
-
-
84872184131
-
Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation
-
P. Krieg, S. Rosenberger, S. de Juanes, S. Latzko, J. Hou, A. Dick, U. Kloz, F. van der Hoeven, I. Hausser, I. Esposito, M. Rauh, and H. Schneider Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation J. Invest. Dermatol. 133 2013 172 180
-
(2013)
J. Invest. Dermatol.
, vol.133
, pp. 172-180
-
-
Krieg, P.1
Rosenberger, S.2
De Juanes, S.3
Latzko, S.4
Hou, J.5
Dick, A.6
Kloz, U.7
Van Der Hoeven, F.8
Hausser, I.9
Esposito, I.10
Rauh, M.11
Schneider, H.12
-
71
-
-
83555175990
-
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia
-
M.A. Aldahmesh, J.Y. Mohamed, H.S. Alkuraya, I.C. Verma, R.D. Puri, A.A. Alaiya, W.B. Rizzo, and F.S. Alkuraya Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia Am. J. Hum. Genet. 89 2011 745 750
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 745-750
-
-
Aldahmesh, M.A.1
Mohamed, J.Y.2
Alkuraya, H.S.3
Verma, I.C.4
Puri, R.D.5
Alaiya, A.A.6
Rizzo, W.B.7
Alkuraya, F.S.8
-
72
-
-
33846903325
-
Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice
-
W. Li, R. Sandhoff, M. Kono, P. Zerfas, V. Hoffmann, B.C.-H. Ding, R.L. Proia, and C.-X. Deng Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice Int. J. Biol. Sci. 3 2007 120 128 (Pubitemid 46232773)
-
(2007)
International Journal of Biological Sciences
, vol.3
, Issue.2
, pp. 120-128
-
-
Li, W.1
Sandhoff, R.2
Kono, M.3
Zerfas, P.4
Hoffmann, V.5
Ding, B.C.-H.6
Proia, R.L.7
Deng, C.-X.8
-
73
-
-
33847334356
-
Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4
-
A. McMahon, I.A. Butovich, N.L. Mata, M. Klein, R. Ritter, J. Richardson, D.G. Birch, A.O. Edwards, and W. Kedzierski Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4 Mol. Vis. 13 2007 258 272 (Pubitemid 46323316)
-
(2007)
Molecular Vision
, vol.13
, pp. 258-272
-
-
McMahon, A.1
Butovich, I.A.2
Mata, N.L.3
Klein, M.4
Ritter III, R.5
Richardson, J.6
Birch, D.G.7
Edwards, A.O.8
Kedzierski, W.9
-
74
-
-
34047174936
-
Loss of functional ELOVL4 depletes very long-chain fatty acids (≥C28) and the unique ω-O-acylceramides in skin leading to neonatal death
-
DOI 10.1093/hmg/ddl480
-
V. Vasireddy, Y. Uchida, N. Salem, S.Y. Kim, M.N.A. Mandal, G.B. Reddy, R. Bodepudi, N.L. Alderson, J.C. Brown, H. Hama, A. Dlugosz, P.M. Elias, W.M. Holleran, and R. Ayyagari Loss of functional ELOVL4 depletes very long-chain fatty acids (> or = C28) and the unique omega-O-acylceramides in skin leading to neonatal death Hum. Mol. Genet. 16 2007 471 482 (Pubitemid 46522611)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.5
, pp. 471-482
-
-
Vasireddy, V.1
Uchida, Y.2
Salem Jr., N.3
Kim, S.Y.4
Mandal, Md.N.A.5
Reddy, G.B.6
Bodepudi, R.7
Alderson, N.L.8
Brown, J.C.9
Hama, H.10
Dlugosz, A.11
Elias, P.M.12
Holleran, W.M.13
Ayyagari, R.14
-
75
-
-
7644230747
-
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
-
DOI 10.1053/j.gastro.2004.07.022, PII S0016508504013307
-
S. Hadj-Rabia, L. Baala, P. Vabres, D. Hamel-Teillac, E. Jacquemin, M. Fabre, S. Lyonnet, Y.D.E. Prost, A. Munnich, M. Hadchouel, and A. Smahi Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease Gastroenterology 127 2004 1386 1390 (Pubitemid 39457765)
-
(2004)
Gastroenterology
, vol.127
, Issue.5
, pp. 1386-1390
-
-
Hadj-Rabia, S.1
Baala, L.2
Vabres, P.3
Hamel-Teillac, D.4
Jacquemin, E.5
Fabre, M.6
Lyonnet, S.7
De Prost, Y.8
Munnich, A.9
Hadchouel, M.10
Smahi, A.11
-
76
-
-
0037128938
-
Claudin-based tight junctions are crucial for the mammalian epidermal barrier: A lesson from claudin-1-deficient mice
-
DOI 10.1083/jcb.200110122
-
M. Furuse, M. Hata, K. Furuse, Y. Yoshida, A. Haratake, Y. Sugitani, T. Noda, A. Kubo, and S. Tsukita Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice J. Cell Biol. 156 2002 1099 1111 (Pubitemid 34839858)
-
(2002)
Journal of Cell Biology
, vol.156
, Issue.6
, pp. 1099-1111
-
-
Furuse, M.1
Hata, M.2
Furuse, K.3
Yoshida, Y.4
Haratake, A.5
Sugitani, Y.6
Noda, T.7
Kubo, A.8
Tsukita, S.9
-
77
-
-
45449109994
-
Omega-O-acylceramide, a lipid essential for mammalian survival
-
Y. Uchida, and W.M. Holleran Omega-O-acylceramide, a lipid essential for mammalian survival J. Dermatol. Sci. 51 2008 77 87
-
(2008)
J. Dermatol. Sci.
, vol.51
, pp. 77-87
-
-
Uchida, Y.1
Holleran, W.M.2
-
78
-
-
77951886452
-
Very long chain sphingolipids: Tissue expression, function and synthesis
-
R. Sandhoff Very long chain sphingolipids: tissue expression, function and synthesis FEBS Lett. 584 2010 1907 1913
-
(2010)
FEBS Lett.
, vol.584
, pp. 1907-1913
-
-
Sandhoff, R.1
-
79
-
-
0025010649
-
Metabolism of linoleic acid in porcine epidermis
-
P.W. Wertz, and D.T. Downing Metabolism of linoleic acid in porcine epidermis J. Lipid Res. 31 1990 1839 1844 (Pubitemid 20387352)
-
(1990)
Journal of Lipid Research
, vol.31
, Issue.10
, pp. 1839-1844
-
-
Wertz, P.W.1
Downing, D.T.2
-
80
-
-
84869205471
-
Imaging mass spectrometry visualizes ceramides and the pathogenesis of Dorfman-Chanarin syndrome due to ceramide metabolic abnormality in the skin
-
N. Goto-Inoue, T. Hayasaka, N. Zaima, K. Nakajima, W.M. Holleran, S. Sano, Y. Uchida, and M. Setou Imaging mass spectrometry visualizes ceramides and the pathogenesis of Dorfman-Chanarin syndrome due to ceramide metabolic abnormality in the skin PLoS One 7 2012 e49519
-
(2012)
PLoS One
, vol.7
, pp. 49519
-
-
Goto-Inoue, N.1
Hayasaka, T.2
Zaima, N.3
Nakajima, K.4
Holleran, W.M.5
Sano, S.6
Uchida, Y.7
Setou, M.8
-
81
-
-
1642523683
-
Lipopenia and Skin Barrier Abnormalities in DGAT2-deficient Mice
-
DOI 10.1074/jbc.M311000200
-
S.J. Stone, H.M. Myers, S.M. Watkins, B.E. Brown, K.R. Feingold, P.M. Elias, and R.V. Farese Lipopenia and skin barrier abnormalities in DGAT2-deficient mice J. Biol. Chem. 279 2004 11767 11776 (Pubitemid 38401682)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.12
, pp. 11767-11776
-
-
Stone, S.J.1
Myers, H.M.2
Watkins, S.M.3
Brown, B.E.4
Feingold, K.R.5
Elias, P.M.6
Farese Jr., R.V.7
-
82
-
-
39549101237
-
Large-scale identification of human genes implicated in epidermal barrier function
-
E. Toulza, N.R. Mattiuzzo, M.-F. Galliano, N. Jonca, C. Dossat, D. Jacob, A. de Daruvar, P. Wincker, G. Serre, and M. Guerrin Large-scale identification of human genes implicated in epidermal barrier function Genome Biol. 8 2007 R107
-
(2007)
Genome Biol.
, vol.8
, pp. 107
-
-
Toulza, E.1
Mattiuzzo, N.R.2
Galliano, M.-F.3
Jonca, N.4
Dossat, C.5
Jacob, D.6
De Daruvar, A.7
Wincker, P.8
Serre, G.9
Guerrin, M.10
-
83
-
-
84856241736
-
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
-
A. Grall, E. Guaguère, S. Planchais, S. Grond, E. Bourrat, I. Hausser, C. Hitte, M. Le Gallo, C. Derbois, G.-J. Kim, L. Lagoutte, F. Degorce-Rubiales, F.P.W. Radner, A. Thomas, S. Küry, E. Bensignor, J. Fontaine, D. Pin, R. Zimmermann, and R. Zechner et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans Nat. Genet. 44 2012 140 147
-
(2012)
Nat. Genet.
, vol.44
, pp. 140-147
-
-
Grall, A.1
Guaguère, E.2
Planchais, S.3
Grond, S.4
Bourrat, E.5
Hausser, I.6
Hitte, C.7
Le Gallo, M.8
Derbois, C.9
Kim, G.-J.10
Lagoutte, L.11
Degorce-Rubiales, F.12
Radner, F.P.W.13
Thomas, A.14
Küry, S.15
Bensignor, E.16
Fontaine, J.17
Pin, D.18
Zimmermann, R.19
Zechner, R.20
more..
-
84
-
-
54049155777
-
CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid
-
A.K. Ghosh, G. Ramakrishnan, C. Chandramohan, and R. Rajasekharan CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid J. Biol. Chem. 283 2008 24525 24533
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 24525-24533
-
-
Ghosh, A.K.1
Ramakrishnan, G.2
Chandramohan, C.3
Rajasekharan, R.4
-
85
-
-
77950609928
-
CGI-58/ABHD5 is a coenzyme A-dependent lysophosphatidic acid acyltransferase
-
G. Montero-Moran, J.M. Caviglia, D. McMahon, A. Rothenberg, V. Subramanian, Z. Xu, S. Lara-Gonzalez, J. Storch, G.M. Carman, and D.L. Brasaemle CGI-58/ABHD5 is a coenzyme A-dependent lysophosphatidic acid acyltransferase J. Lipid Res. 51 2010 709 719
-
(2010)
J. Lipid Res.
, vol.51
, pp. 709-719
-
-
Montero-Moran, G.1
Caviglia, J.M.2
McMahon, D.3
Rothenberg, A.4
Subramanian, V.5
Xu, Z.6
Lara-Gonzalez, S.7
Storch, J.8
Carman, G.M.9
Brasaemle, D.L.10
-
86
-
-
77951245602
-
The N-terminal region of comparative gene identification-58 (CGI-58) is important for lipid droplet binding and activation of adipose triglyceride lipase
-
A. Gruber, I. Cornaciu, A. Lass, M. Schweiger, M. Poeschl, C. Eder, M. Kumari, G. Schoiswohl, H. Wolinski, S.D. Kohlwein, R. Zechner, R. Zimmermann, and M. Oberer The N-terminal region of comparative gene identification-58 (CGI-58) is important for lipid droplet binding and activation of adipose triglyceride lipase J. Biol. Chem. 285 2010 12289 12298
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 12289-12298
-
-
Gruber, A.1
Cornaciu, I.2
Lass, A.3
Schweiger, M.4
Poeschl, M.5
Eder, C.6
Kumari, M.7
Schoiswohl, G.8
Wolinski, H.9
Kohlwein, S.D.10
Zechner, R.11
Zimmermann, R.12
Oberer, M.13
-
87
-
-
84863011285
-
CGI-58/ABHD5-derived signaling lipids regulate systemic inflammation and insulin action
-
C.C. Lord, J.L. Betters, P.T. Ivanova, S.B. Milne, D.S. Myers, J. Madenspacher, G. Thomas, S. Chung, M. Liu, M. a Davis, R.G. Lee, R.M. Crooke, M.J. Graham, J.S. Parks, D.L. Brasaemle, M.B. Fessler, H.A. Brown, and J.M. Brown CGI-58/ABHD5-derived signaling lipids regulate systemic inflammation and insulin action Diabetes 61 2012 355 363
-
(2012)
Diabetes
, vol.61
, pp. 355-363
-
-
Lord, C.C.1
Betters, J.L.2
Ivanova, P.T.3
Milne, S.B.4
Myers, D.S.5
Madenspacher, J.6
Thomas, G.7
Chung, S.8
Liu, M.9
Davis, M.A.10
Lee, R.G.11
Crooke, R.M.12
Graham, M.J.13
Parks, J.S.14
Brasaemle, D.L.15
Fessler, M.B.16
Brown, H.A.17
Brown, J.M.18
-
88
-
-
0032448111
-
Differential expression of peroxisome proliferator-activated receptor subtypes during the differentiation of human keratinocytes
-
DOI 10.1046/j.1523-1747.1998.00439.x
-
M. Rivier, I. Safonova, P. Lebrun, C.E. Griffiths, G. Ailhaud, and S. Michel Differential expression of peroxisome proliferator-activated receptor subtypes during the differentiation of human keratinocytes J. Invest. Dermatol. 111 1998 1116 1121 (Pubitemid 29115184)
-
(1998)
Journal of Investigative Dermatology
, vol.111
, Issue.6
, pp. 1116-1121
-
-
Rivier, M.1
Safonova, I.2
Lebrun, P.3
Griffiths, C.E.M.4
Ailhaud, G.5
Michel, S.6
-
89
-
-
0030977788
-
Expression of retinoid-X receptors (-α,-β,-γ) and retinoic acid receptors (-α,-β,-γ) in normal human skin: An immunohistological evaluation
-
J. Reichrath, M. Mittmann, J. Kamradt, and S.M. Müller Expression of retinoid-X receptors (- alpha,-beta,-gamma) and retinoic acid receptors (- alpha,-beta,-gamma) in normal human skin: an immunohistological evaluation Histochem. J. 29 1997 127 133 (Pubitemid 27192187)
-
(1997)
Histochemical Journal
, vol.29
, Issue.2
, pp. 127-133
-
-
Reichrath, J.1
Mittmann, M.2
Kamradt, J.3
Muller, S.M.4
-
90
-
-
34548484120
-
Characterization of liver X receptor expression and function in human skin and the pilosebaceous unit
-
DOI 10.1111/j.1600-0625.2007.00612.x
-
L.E. Russell, W.J. Harrison, A.W. Bahta, C.C. Zouboulis, J.M. Burrin, and M.P. Philpott Characterization of liver X receptor expression and function in human skin and the pilosebaceous unit Exp. Dermatol. 16 2007 844 852 (Pubitemid 47377650)
-
(2007)
Experimental Dermatology
, vol.16
, Issue.10
, pp. 844-852
-
-
Russell, L.E.1
Harrison, W.J.2
Bahta, A.W.3
Zouboulis, C.C.4
Burrin, J.M.5
Philpott, M.P.6
-
91
-
-
0031945627
-
Keratinocyte differentiation is stimulated by activators of the nuclear hormone receptor PPARα
-
DOI 10.1046/j.1523-1747.1998.00139.x
-
K. Hanley, Y. Jiang, S.S. He, M. Friedman, P.M. Elias, D.D. Bikle, M.L. Williams, and K.R. Feingold Keratinocyte differentiation is stimulated by activators of the nuclear hormone receptor PPARα J. Invest. Dermatol. 10 1998 368 375 (Pubitemid 28158652)
-
(1998)
Journal of Investigative Dermatology
, vol.110
, Issue.4
, pp. 368-375
-
-
Hanley, K.1
Jiang, Y.2
He, S.S.3
Freidman, M.4
Elias, P.M.5
Bikle, D.D.6
Williams, M.L.7
Feingold, K.R.8
-
92
-
-
0034126633
-
Oxysterols induce differentiation in human keratinocytes and increase AP-1-dependent involucrin transcription
-
DOI 10.1046/j.1523-1747.2000.00895.x
-
K. Hanley, D.C. Ng, S.S. He, P. Lau, K. Min, P.M. Elias, D.D. Bikle, D.J. Mangelsdorf, M.L. Williams, and K.R. Feingold Oxysterols induce differentiation in human keratinocytes and increase Ap-1-dependent involucrin transcription J. Invest. Dermatol. 114 2000 545 553 (Pubitemid 30415343)
-
(2000)
Journal of Investigative Dermatology
, vol.114
, Issue.3
, pp. 545-553
-
-
Hanley, K.1
Ng, D.C.2
He, S.S.3
Lau, P.4
Min, K.5
Elias, P.M.6
Bikle, D.D.7
Mangelsdorf, D.J.8
Williams, M.L.9
Feingold, K.R.10
-
93
-
-
0033624558
-
Stimulation of PPARa promotes epidermal keratinocyte differentiation in vivo
-
L.G. Kömüves, K. Hanley, A. Lefebvre, M. Man, D.C. Ng, D.D. Bikle, M.L. Williams, P.M. Elias, J. Auwerx, and K.R. Feingold Stimulation of PPARa promotes epidermal keratinocyte differentiation in vivo J. Invest. Dermatol. 115 2000 353 360
-
(2000)
J. Invest. Dermatol.
, vol.115
, pp. 353-360
-
-
Kömüves, L.G.1
Hanley, K.2
Lefebvre, A.3
Man, M.4
Ng, D.C.5
Bikle, D.D.6
Williams, M.L.7
Elias, P.M.8
Auwerx, J.9
Feingold, K.R.10
-
94
-
-
47349100516
-
Peroxisome proliferator-activated receptors (PPARs) and the human skin: Importance of PPARs in skin physiology and dermatologic diseases
-
DOI 10.2165/00128071-200809010-00002
-
P. Sertznig, M. Seifert, W. Tilgen, and J. Reichrath Peroxisome proliferator-activated receptors (PPARs) and the human skin: importance of PPARs in skin physiology and dermatologic diseases Am. J. Clin. Dermatol. 9 2008 15 31 (Pubitemid 351993189)
-
(2008)
American Journal of Clinical Dermatology
, vol.9
, Issue.1
, pp. 15-31
-
-
Sertznig, P.1
Seifert, M.2
Tilgen, W.3
Reichrath, J.4
-
95
-
-
42949178186
-
Thematic review series: Skin lipids Peroxisome proliferator-activated receptors and liver X receptors in epidermal biology
-
M. Schmuth, Y.J. Jiang, S. Dubrac, P.M. Elias, and K.R. Feingold Thematic review series: skin lipids Peroxisome proliferator-activated receptors and liver X receptors in epidermal biology J. Lipid Res. 49 2008 499 509
-
(2008)
J. Lipid Res.
, vol.49
, pp. 499-509
-
-
Schmuth, M.1
Jiang, Y.J.2
Dubrac, S.3
Elias, P.M.4
Feingold, K.R.5
-
96
-
-
84859771433
-
Regulation of permeability barrier homeostasis
-
K.R. Feingold, and M. Denda Regulation of permeability barrier homeostasis Clin. Dermatol. 30 2012 263 268
-
(2012)
Clin. Dermatol.
, vol.30
, pp. 263-268
-
-
Feingold, K.R.1
Denda, M.2
-
97
-
-
55349096503
-
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes
-
M. Akiyama, K. Sakai, C. Takayama, T. Yanagi, Y. Yamanaka, J.R. McMillan, and H. Shimizu CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes Am. J. Pathol. 173 2008 1349 1360
-
(2008)
Am. J. Pathol.
, vol.173
, pp. 1349-1360
-
-
Akiyama, M.1
Sakai, K.2
Takayama, C.3
Yanagi, T.4
Yamanaka, Y.5
McMillan, J.R.6
Shimizu, H.7
-
98
-
-
0030835838
-
Activators of the nuclear hormone receptors PPARα and FXR accelerate the development of the fetal epidermal permeability barrier
-
K. Hanley, Y. Jiang, D. Crumrine, N.M. Bass, R. Appel, P.M. Elias, and M.L. Williams Activators of the nuclear hormone receptors PPARalpha and FXR accelerate the development of the fetal epidermal permeability barrier J. Clin. Invest. 100 1997 705 712 (Pubitemid 27340520)
-
(1997)
Journal of Clinical Investigation
, vol.100
, Issue.3
, pp. 705-712
-
-
Hanley, K.1
Jiang, Y.2
Crumrine, D.3
Bass, N.M.4
Appel, R.5
Elias, P.M.6
Williams, M.L.7
Feingold, K.R.8
-
99
-
-
0031657806
-
Ligands and activators of nuclear hormone receptors regulate epidermal differentiation during fetal rat skin development
-
DOI 10.1046/j.1523-1747.1998.00296.x
-
L.G. Kömüves, K. Hanley, Y. Jiang, P.M. Elias, M.L. Williams, and K.R. Feingold Ligands and activators of nuclear hormone receptors regulate epidermal differentiation during fetal rat skin development J. Invest. Dermatol. 111 1998 429 433 (Pubitemid 28400089)
-
(1998)
Journal of Investigative Dermatology
, vol.111
, Issue.3
, pp. 429-433
-
-
Komuves, L.G.1
Hanley, K.2
Jiang, Y.3
Elias, P.M.4
Williams, M.L.5
Feingold, K.R.6
-
100
-
-
80052454265
-
ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1
-
G. Haemmerle, T. Moustafa, G. Woelkart, S. Büttner, A. Schmidt, T. van de Weijer, M. Hesselink, D. Jaeger, P.C. Kienesberger, K. Zierler, R. Schreiber, T. Eichmann, D. Kolb, P. Kotzbeck, M. Schweiger, M. Kumari, S. Eder, G. Schoiswohl, N. Wongsiriroj, and N.M. Pollak et al. ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1 Nat. Med. 17 2011 1076 1085
-
(2011)
Nat. Med.
, vol.17
, pp. 1076-1085
-
-
Haemmerle, G.1
Moustafa, T.2
Woelkart, G.3
Büttner, S.4
Schmidt, A.5
Van De Weijer, T.6
Hesselink, M.7
Jaeger, D.8
Kienesberger, P.C.9
Zierler, K.10
Schreiber, R.11
Eichmann, T.12
Kolb, D.13
Kotzbeck, P.14
Schweiger, M.15
Kumari, M.16
Eder, S.17
Schoiswohl, G.18
Wongsiriroj, N.19
Pollak, N.M.20
more..
-
101
-
-
84876009387
-
Functional cardiac lipolysis in mice critically depends on comparative gene identification-58
-
K.A. Zierler, D. Jaeger, N.M. Pollak, S. Eder, G.N. Rechberger, F.P.W. Radner, G. Woelkart, D. Kolb, A. Schmidt, M. Kumari, K. Preiss-Landl, B. Pieske, B. Mayer, R. Zimmermann, A. Lass, R. Zechner, and G. Haemmerle Functional cardiac lipolysis in mice critically depends on comparative gene identification-58 J. Biol. Chem. 288 2013 9892 9904
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 9892-9904
-
-
Zierler, K.A.1
Jaeger, D.2
Pollak, N.M.3
Eder, S.4
Rechberger, G.N.5
Radner, F.P.W.6
Woelkart, G.7
Kolb, D.8
Schmidt, A.9
Kumari, M.10
Preiss-Landl, K.11
Pieske, B.12
Mayer, B.13
Zimmermann, R.14
Lass, A.15
Zechner, R.16
Haemmerle, G.17
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