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

Seipin: from human disease to molecular mechanism.

Journal of lipid research - 1 Jun 2012

Cartwright Bethany R, Goodman Joel M

Abstract excerpt

The most-severe form of congenital generalized lipodystrophy (CGL) is caused by mutations in BSCL2/seipin. Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum that concentrates at junctions with cytoplasmic lipid droplets (LDs). While null mutations in seipin are responsible for lipodystrophy, dominant mutations cause peripheral neuropathy and other nervous system pathologies. We...

Read the complete abstract on PubMed

Topics

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

Share to Disease
Share to BSCL2 gene
Share to Gene Expression Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Protein gamma Subunits

Share to Nervous System Diseases

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 22474068
DOI: 10.1194/jlr.R023754
PMCID: PMC3351812

Genes

BSCL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Seipin: from human disease to molecular mechanism.PMID 22474068Read ↗

Towards a mechanistic understanding of lipodystrophy and seipin functions.Semantic proximity Read ↗

Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms.Semantic proximity Read ↗

Function of seipin: new insights from Bscl2/seipin knockout mouse models.Semantic proximity Read ↗

The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.Semantic proximity Read ↗

Seipinopathy: a novel endoplasmic reticulum stress-associated disease.Semantic proximity Read ↗

N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasisSemantic proximity Read ↗

N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis.Semantic proximity Read ↗

Identification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in <i>C. elegans</i>Semantic proximity Read ↗

“Seipin mediates Perilipin-1 recruitment to lipid droplets to preserve human adipocyte identity”Semantic proximity Read ↗

[Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress].Semantic proximity Read ↗

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.Semantic proximity Read ↗

A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.Semantic proximity Read ↗

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