Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function
出版年份 2012 全文链接
标题
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 21, Issue 24, Pages 5318-5328
出版商
Oxford University Press (OUP)
发表日期
2012-09-19
DOI
10.1093/hmg/dds388
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Cardiac dysfunction in adipose triglyceride lipase deficiency: treatment with a PPARα agonist
- (2011) G Wölkart et al. BRITISH JOURNAL OF PHARMACOLOGY
- New insights into therapeutic options for Pompe disease
- (2011) Emmanuel Richard et al. IUBMB LIFE
- The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
- (2011) Peter Reilich et al. JOURNAL OF NEUROLOGY
- ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1
- (2011) Guenter Haemmerle et al. NATURE MEDICINE
- Differential control of ATGL-mediated lipid droplet degradation by CGI-58 and G0S2
- (2010) Xin Lu et al. CELL CYCLE
- Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene
- (2010) Hasan O. Akman et al. NEUROMUSCULAR DISORDERS
- Investigation and Functional Characterization of Rare Genetic Variants in the Adipose Triglyceride Lipase in a Large Healthy Working Population
- (2010) Stefan Coassin et al. PLoS Genetics
- Adipose triacylglycerol lipase deletion alters whole body energy metabolism and impairs exercise performance in mice
- (2009) Elisabeth Huijsman et al. AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM
- Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5
- (2009) Martina Schweiger et al. AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM
- Adipose triglyceride lipase plays a key role in the supply of the working muscle with fatty acids
- (2009) Gabriele Schoiswohl et al. JOURNAL OF LIPID RESEARCH
- CGI-58/ABHD5 is a coenzyme A-dependent lysophosphatidic acid acyltransferase
- (2009) Gabriela Montero-Moran et al. JOURNAL OF LIPID RESEARCH
- Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy
- (2008) Filomena Campagna et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- The C-terminal Region of Human Adipose Triglyceride Lipase Affects Enzyme Activity and Lipid Droplet Binding
- (2008) Martina Schweiger et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- CGI-58, the Causative Gene for Chanarin-Dorfman Syndrome, Mediates Acylation of Lysophosphatidic Acid
- (2008) Ananda K. Ghosh et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Lack of the C-Terminal Domain of Adipose Triglyceride Lipase Causes Neutral Lipid Storage Disease through Impaired Interactions with Lipid Droplets
- (2008) Kunihisa Kobayashi et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores
- (2008) Rudolf Zechner et al. JOURNAL OF LIPID RESEARCH
- Triglyceride Deposit Cardiomyovasculopathy
- (2008) Ken-ichi Hirano et al. NEW ENGLAND JOURNAL OF MEDICINE
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started