Symptomatic lipid storage in carriers for the PNPLA2 gene

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles

(2011) J. Chen et al.   CLINICAL NEUROPATHOLOGY

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

The Minimal Domain of Adipose Triglyceride Lipase (ATGL) Ranges until Leucine 254 and Can Be Activated and Inhibited by CGI-58 and G0S2, Respectively

(2011) Irina Cornaciu et al.   PLoS One

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

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

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