The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

Hormone-sensitive lipase is critical mediators of acute exercise-induced regulation of lipolysis in rat adipocytes

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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

Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges

(2010) Pascal Laforêt et al.   NEUROMUSCULAR DISORDERS

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

Clinical and genetic analysis of lipid storage myopathies

(2009) Aya Ohkuma et al.   MUSCLE & NERVE

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

Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase

(2008) Tomohiro Yamaguchi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Lipid storage myopathies

(2008) Claudio Bruno et al.   CURRENT OPINION IN NEUROLOGY

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

Distal lipid storage myopathy due to PNPLA2 mutation

(2008) Aya Ohkuma et al.   NEUROMUSCULAR DISORDERS

Triglyceride Deposit Cardiomyovasculopathy

(2008) Ken-ichi Hirano et al.   NEW ENGLAND JOURNAL OF MEDICINE