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Article

Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2.

Biochimica et biophysica acta. Molecular and cell biology of lipids - 1 Apr 2020

Craveiro Sarmento Aquiles Sales, Gomes Lima Josivan, de Souza Timoteo Ana Rafaela, Galvão Ururahy Marcela Abbott, Antunes de Araújo Aurigena, Carvalho Vasconcelos Roseane, Cândido Dantas Verônica Kristina, Fassarella Agnez-Lima Lucymara, Araújo de Melo Campos Julliane Tamara

Abstract excerpt

CGL type 2 is a rare autosomal recessive syndrome characterized by an almost complete lack of body fat. CGL is caused by loss-of-function mutations in both alleles of the BSCL2 gene that codifies to seipin. Subjects often show hyperglycemia, decreased HDL-c, and hypoadiponectinemia. These laboratory findings are important triggers for changes in redox and ER homeostasis. Therefore, our aim was to investigate...

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Identifiers

PMID: 31917334
DOI: 10.1016/j.bbalip.2020.158610

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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