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Article

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.

Science advances - 1 May 2017

Halabi Carmen M, Broekelmann Thomas J, Lin Michelle, Lee Vivian S, Chu Mon-Li, Mecham Robert P

Abstract excerpt

Homozygous or compound heterozygous mutations in fibulin-4 (FBLN4) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial tortuosity, and aortic aneurysms. We sought to determine the consequences of a human disease-causing mutation in FBLN4 (E57K) on the cardiovascular system and...

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Share to Aortic Aneurysm
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cutis Laxa

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Share to Protein-Lysine 6-Oxidase

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Source

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Identifiers

PMID: 28508064
DOI: 10.1126/sciadv.1602532
PMCID: PMC5415335

Provenance

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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