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

Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.

Biochimie - 1 Jun 2009

Boutet Emilie, El Mourabit Haquima, Prot Matthieu, Nemani Mona, Khallouf Eliane, Colard Odile, Maurice Michèle, Durand-Schneider Anne-Marie, Chrétien Yves, Grès Sandra, Wolf Claude, Saulnier-Blache Jean-Sébastien, Capeau Jacqueline, Magré Jocelyne

Abstract excerpt

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by near absence of adipose tissue and severe insulin resistance. In most cases, BSCL is due to loss-of-function mutations in the genes encoding either seipin of unknown function or 1-acyl-glycerol-3-phosphate O-acyltransferase 2 (AGPAT2) which catalyses the formation of phosphatidic acid from lysophosphatidic acid. We...

Read the complete abstract on PubMed

Topics

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

Share to 1-Acylglycerol-3-Phosphate O-Acyltransferase
Share to Cell Line, Transformed

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatty Acids, Unsaturated

Share to GTP-Binding Protein gamma Subunits

Share to Lipid Metabolism

Share to Lymphocytes

Share to Microscopy, Confocal

Share to Stearoyl-CoA Desaturase

Source

Identifiers

PMID: 19278620
DOI: 10.1016/j.biochi.2009.01.011

Genes

AGPAT2

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

Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.PMID 19278620Read ↗

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

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

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

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

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

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

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

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

Prevalence of mutations in AGPAT2 among human lipodystrophies.Semantic proximity Read ↗

Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.Semantic proximity Read ↗

Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).Semantic proximity Read ↗

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

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