Associated Papers
Multiscale Analysis of PNPLA2 and PNPLA3 Membrane Targeting.
Kumar A et al.
Biorxiv : the Preprint Server for Biology, 2026
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
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
Symptomatic lipid storage in carriers for the PNPLA2 gene.
Janssen MC et al.
European Journal of Human Genetics : Ejhg, 2013
PNPLA3/adiponutrin functions in lipid droplet formation.
Chamoun Z et al.
Biology of the Cell, 2013
Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.
van de Weijer T et al.
Circulation Research, 2013
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
Tavian D et al.
Human Molecular Genetics, 2012
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Reilich P et al.
Journal of Neurology, 2011
Interaction between the triglyceride lipase ATGL and the Arf1 activator GBF1.
Ellong EN et al.
Plos One, 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
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
Adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores.
Zechner R et al.
Journal of Lipid Research, 2009
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy.
Campagna F et al.
Biochemical and Biophysical Research Communications, 2008
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