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

Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.

Metabolism: clinical and experimental - 1 Apr 2016

Mori Eisaku, Fujikura Junji, Noguchi Michio, Nakao Kazuhiro, Matsubara Masaki, Sone Masakatsu, Taura Daisuke, Kusakabe Toru, Ebihara Ken, Tanaka Takayuki, Hosoda Kiminori, Takahashi Kazutoshi, Asaka Isao, Inagaki Nobuya, Nakao Kazuwa

Abstract excerpt

OBJECTIVE: Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder characterized by marked scarcity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early-onset diabetes. Mutation of the BSCL2/SEIPIN gene causes the most severe form of CGL. The aim of this study was to generate induced pluripotent stem (iPS) cells from patients with CGL harboring...

Read the complete abstract on PubMed

Topics

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

Share to Adipogenesis
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Embryoid Bodies

Share to GTP-Binding Protein gamma Subunits

Share to Induced Pluripotent Stem Cells

Share to Kruppel-Like Factor 4

Share to Teratoma

Source

Identifiers

PMID: 26975546
DOI: 10.1016/j.metabol.2015.12.015

Genes

BSCL2
KLF4
MYC
NANOG
SOX2
TRA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.PMID 26975546Read ↗

The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte DifferentiationSemantic proximity Read ↗

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

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

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

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

Seipin ablation in mice results in severe generalized lipodystrophy.Semantic proximity Read ↗

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

Lack of testicular seipin causes teratozoospermia syndrome in menSemantic proximity Read ↗

Seipin: from human disease to molecular mechanism.Semantic proximity Read ↗

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

Seipin Deficiency as a Model of Severe Adipocyte Dysfunction: Lessons from Rodent Models and Teaching for Human Disease.Semantic proximity Read ↗

Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation.Semantic proximity Read ↗

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