Associated Papers
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P et al.
Nature Communications, 2022
35999217 (PubMed )
Supplement: 41467_2022_32398_MOESM1_ESM.pdf
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.
Saint-Martin C et al.
Diabetes, 2022
A TALEN genome-editing system for generating human stem cell-based disease models.
Ding Q et al.
Cell Stem Cell, 2013
Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5).
Gandotra S et al.
The Journal of Biological Chemistry, 2011
Perilipin deficiency and autosomal dominant partial lipodystrophy.
Gandotra S et al.
The New England Journal of Medicine, 2011
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