Perilipin deficiency and autosomal dominant partial lipodystrophy.
about
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophyPathogenesis of the metabolic syndrome: insights from monogenic disordersOn the formation of lipid droplets in human adipocytes: the organization of the perilipin-vimentin cortexLeptin revisited: its mechanism of action and potential for treating diabetes.Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver diseasePerilipins 2 and 3 lack a carboxy-terminal domain present in perilipin 1 involved in sequestering ABHD5 and suppressing basal lipolysis.Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.The role of lipid droplets in metabolic disease in rodents and humans.Lipodystrophy syndromesDefective differentiation of adipose precursor cells from lipodystrophic mice lacking perilipin 1.Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.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)Lipid body formation during maturation of human mast cells.Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.The role of hepatic lipids in hepatic insulin resistance and type 2 diabetesRole of adipose specific lipid droplet proteins in maintaining whole body energy homeostasisPerilipins: lipid droplet coat proteins adapted for tissue-specific energy storage and utilization, and lipid cytoprotectionDiacylglycerol activation of protein kinase Cε and hepatic insulin resistance.Perilipin family members preferentially sequester to either triacylglycerol-specific or cholesteryl-ester-specific intracellular lipid storage droplets.Visceral and subcutaneous adipose tissue from lean women respond differently to lipopolysaccharide-induced alteration of inflammation and glyceroneogenesisA TALEN genome-editing system for generating human stem cell-based disease models.Peri-adipocyte ECM remodeling in obesity and adipose tissue fibrosis.Function of Lipid Storage Droplet 1 (Lsd1) in Wing Development of Drosophila melanogaster.Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophyTargeting Fat: Mechanisms of Protein Localization to Lipid DropletsAdipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance.The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.Nonalcoholic fatty liver disease, hepatic insulin resistance, and type 2 diabetes.Pharmacological inhibition of adipose triglyceride lipase corrects high-fat diet-induced insulin resistance and hepatosteatosis in mice.Mechanistic insights into insulin resistance in the genetic era.Balancing the fat: lipid droplets and human disease.What the genetics of lipodystrophy can teach us about insulin resistance and diabetes.Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.Regulation of adipocyte lipolysis.Congenital lipodystrophies and dyslipidemias.Inborn errors of cytoplasmic triglyceride metabolism.Lipodystrophies: adipose tissue disorders with severe metabolic implications.Molecular mechanisms of fatty liver in obesity.Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy.Genetics of Lipodystrophy.
P2860
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P2860
Perilipin deficiency and autosomal dominant partial lipodystrophy.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on February 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Perilipin deficiency and autosomal dominant partial lipodystrophy.
@en
Perilipin deficiency and autosomal dominant partial lipodystrophy.
@nl
type
label
Perilipin deficiency and autosomal dominant partial lipodystrophy.
@en
Perilipin deficiency and autosomal dominant partial lipodystrophy.
@nl
prefLabel
Perilipin deficiency and autosomal dominant partial lipodystrophy.
@en
Perilipin deficiency and autosomal dominant partial lipodystrophy.
@nl
P2093
P2860
P50
P356
P1476
Perilipin deficiency and autosomal dominant partial lipodystrophy.
@en
P2093
Caroline Le Dour
Corinne Vigouroux
Guillaume Charpentier
Jacqueline Capeau
Jocelyne Magré
Marc Delépine
Martine Auclair
Olivier Lascols
Pascale Cervera
Philippe Giral
P2860
P304
P356
10.1056/NEJMOA1007487
P407
P577
2011-02-01T00:00:00Z