Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.

The New England journal of medicine - 12 Jun 2014

Albert Jessica S, Yerges-Armstrong Laura M, Horenstein Richard B, Pollin Toni I, Sreenivasan Urmila T, Chai Sumbul, Blaner William S, Snitker Soren, O'Connell Jeffrey R, Gong Da-Wei, Breyer Richard J, Ryan Alice S, McLenithan John C, Shuldiner Alan R, Sztalryd Carole, Damcott Coleen M

Abstract excerpt

BACKGROUND: Lipolysis regulates energy homeostasis through the hydrolysis of intracellular triglycerides and the release of fatty acids for use as energy substrates or lipid mediators in cellular processes. Genes encoding proteins that regulate energy homeostasis through lipolysis are thus likely to play an important role in determining susceptibility to metabolic disorders. METHODS: We sequenced 12...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Heterozygote
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Dyslipidemias

Share to Frameshift Mutation

Share to Insulin Resistance

Share to Lipolysis

Share to Metabolic Networks and Pathways

Share to Sterol Esterase

Source

Open in PubMed Open full text

Identifiers

PMID: 24848981
DOI: 10.1056/NEJMoa1315496
PMCID: PMC4096982

Genes

LIPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.PMID 24848981Read ↗

Two novel prevalent polymorphisms in the hormone-sensitive lipase gene have no effect on insulin sensitivity of lipolysis and glucose disposal.Semantic proximity Read ↗

Genetics of Lipodystrophy.Semantic proximity Read ↗

The heterozygous N291S mutation in the lipoprotein lipase gene impairs whole-body insulin sensitivity and affects a distinct set of plasma metabolites in humans.Semantic proximity Read ↗

Hormone-sensitive lipase deficiency in humans.Semantic proximity Read ↗

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy.Semantic proximity Read ↗

Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.Semantic proximity Read ↗

Genome-wide association study of adipocyte lipolysis in the GENetics of adipocyte lipolysis (GENiAL) cohort.Semantic proximity Read ↗

Transcriptional regulation of adipocyte lipolysis by IRF2BP2Semantic proximity Read ↗

Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.Semantic proximity Read ↗

A common hormone-sensitive lipase i6 gene polymorphism is associated with decreased human adipocyte lipolytic function.Semantic proximity Read ↗

LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells.Semantic proximity Read ↗

The putative role of the hormone-sensitive lipase gene in the pathogenesis of Type II diabetes mellitus and abdominal obesity.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.