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Article

Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.

The Journal of biological chemistry - 28 Aug 2015

Igoucheva Olga, Alexeev Vitali, Halabi Carmen M, Adams Sheila M, Stoilov Ivan, Sasaki Takako, Arita Machiko, Donahue Adele, Mecham Robert P, Birk David E, Chu Mon-Li

Abstract excerpt

Fibulin-4 is an extracellular matrix protein essential for elastic fiber formation. Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, and skeletal abnormalities. Homozygous missense mutations in FBLN4 are a prevalent cause of ARCL 1B. Here we generated a knock-in...

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Identifiers

PMID: 26178373
DOI: 10.1074/jbc.M115.640425
PMCID: PMC4571872

Genes

EFEMP2

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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.

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Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.PMID 26178373Read ↗

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