Associated Papers
DFCP1 is a regulator of starvation-driven ATGL-mediated lipid droplet lipolysis.
Ismail VA et al.
Journal of Lipid Research, 2025
Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review.
Wang S et al.
Frontiers in Genetics, 2024
39119584 (PubMed )
Supplement: Table1.XLSX › Sheet1
Whole-Exome Sequencing Analysis of Oral Squamous Cell Carcinoma Delineated by Tobacco Usage Habits.
Patel K et al.
Frontiers in Oncology, 2021
34136393 (PubMed )
Supplement: Table_4.pdf
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
Missaglia S et al.
Cells, 2019
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
A myopathy with unusual features caused by PNPLA2 gene mutations.
Pennisi EM et al.
Muscle & Nerve, 2015
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
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
Select a paper to view details