Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58 deficiency: myopathy, ichthyosis, but no obesity

被引：6

作者：

Fischer, Judith

Negre-Solvayre, Anne

Salvayre, Robert

机构：

[1] Ctr Natl Genotypage, F-91057 Evry, France

[2] Univ Toulouse 3, INSERM U466, IFR 31, CHU Rangueil, F-31059 Toulouse, France

来源：

M S-MEDECINE SCIENCES | 2007年 / 23卷 / 6-7期

关键词：

D O I：

10.1051/medsci/20072367575

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

引用

页码：575 / 578

页数：4

共 10 条

[1] NEUTRAL LIPID STORAGE DISEASE - NEW DISORDER OF LIPID-METABOLISM [J].

CHANARIN, I ;

PATEL, A ;

SLAVIN, G ;

WILLS, EJ ;

ANDREWS, TM ;

STEWART, G .

BRITISH MEDICAL JOURNAL, 1975, 1 (5957) :553-555

[2] ICHTHYOSIFORM DERMATOSIS WITH SYSTEMIC LIPIDOSIS [J].

DORFMAN, ML ;

HERSHKO, C ;

EISENBERG, S ;

SAGHER, F .

ARCHIVES OF DERMATOLOGY, 1974, 110 (02) :261-266

[3] The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy [J].

Fischer, Judith ;

Lefevre, Caroline ;

Morava, Eva ;

Mussini, Jean-Marie ;

Laforet, Pascal ;

Negre-Salvayre, Anne ;

Lathrop, Mark ;

Salvayre, Robert .

NATURE GENETICS, 2007, 39 (01) :28-30

[4] Defective lipolysis and altered energy metabolism in mice lacking adipose triglyceride lipase [J].

Haemmerle, G ;

Lass, A ;

Zimmermann, R ;

Gorkiewicz, G ;

Meyer, C ;

Rozman, J ;

Heldmaier, G ;

Maier, R ;

Theussl, C ;

Eder, S ;

Kratky, D ;

Wagner, EF ;

Klingenspor, M ;

Hoefler, G ;

Zechner, R .

SCIENCE, 2006, 312 (5774) :734-737

[5]

JORDANS GHW, 1953, ACTA MED SCAND, V145, P419

[6] Adipose triglyceridelipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome [J].

Lass, Achim ;

Zimmermann, Robert ;

Haemmerle, Guenter ;

Riederer, Monika ;

Schoiswohl, Gabriele ;

Schweiger, Martina ;

Kienesberger, Petra ;

Strauss, Juliane G. ;

Gorkiewicz, Gregor ;

Zechner, Rudolf .

CELL METABOLISM, 2006, 3 (05) :309-319

[7] Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome [J].

Lefevre, C ;

Jobard, F ;

Caux, F ;

Bouadjar, B ;

Karaduman, A ;

Heilig, R ;

Lakhdar, H ;

Wollenberg, A ;

Verret, JL ;

Weissenbach, J ;

Özgüc, M ;

Lathrop, M ;

Prud'homme, JF ;

Fischer, J .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1002-1012

[8] INDEPENDENCE OF TRIACYLGLYCEROL-CONTAINING COMPARTMENTS IN CULTURED FIBROBLASTS FROM WOLMAN DISEASE AND MULTISYSTEMIC LIPID STORAGE MYOPATHY [J].

SALVAYRE, R ;

NEGRE, A ;

RADOM, J ;

DOUSTEBLAZY, L .

FEBS LETTERS, 1989, 250 (01) :35-39

[9] Lipolysis: pathway under construction [J].

Zechner, R ;

Strauss, JG ;

Haemmerle, G ;

Lass, A ;

Zimmermann, R .

CURRENT OPINION IN LIPIDOLOGY, 2005, 16 (03) :333-340

[10] Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase [J].

Zimmermann, R ;

Strauss, JG ;

Haemmerle, G ;

Schoiswohl, G ;

Birner-Gruenberger, R ;

Riederer, M ;

Lass, A ;

Neuberger, G ;

Eisenhaber, F ;

Hermetter, A ;

Zechner, R .

SCIENCE, 2004, 306 (5700) :1383-1386

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