Associated Papers
Mutational scanning pinpoints distinct binding sites of key ATGL regulators in lipolysis.
Kohlmayr JM et al.
Nature Communications, 2024
Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review.
Wang S et al.
Frontiers in Genetics, 2024
HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy.
Fu X et al.
Neuromuscular Disorders : Nmd, 2023
Optimized expression and purification of adipose triglyceride lipase improved hydrolytic and transacylation activities in vitro.
Kulminskaya N et al.
The Journal of Biological Chemistry, 2021
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Pennisi EM et al.
Orphanet Journal of Rare Diseases, 2017
Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.
Higashi M et al.
International Journal of Cardiology, 2015
Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.
Hirano K et al.
Biochemical and Biophysical Research Communications, 2014
Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy.
Suzuki A et al.
Molecular Genetics and Metabolism Reports, 2014
PNPLA2 mutation: a paediatric case with early onset but indolent course.
Perrin L et al.
Neuromuscular Disorders : Nmd, 2013
Symptomatic lipid storage in carriers for the PNPLA2 gene.
Janssen MC et al.
European Journal of Human Genetics : Ejhg, 2013
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.
Laforêt P et al.
Molecular Genetics and Metabolism, 2013
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Fiorillo C et al.
Biochemical and Biophysical Research Communications, 2013
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Reilich P et al.
Journal of Neurology, 2011
Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.
Coassin S et al.
Plos Genetics, 2010
Characterization of desnutrin functional domains: critical residues for triacylglycerol hydrolysis in cultured cells.
Duncan RE et al.
Journal of Lipid Research, 2010
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
Schweiger M et al.
American Journal of Physiology. Endocrinology and Metabolism, 2009
The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding.
Schweiger M et al.
The Journal of Biological Chemistry, 2008
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
Fischer J et al.
Nature Genetics, 2007