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

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 a...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2015
Assuntos:
Glycobiology and Extracellular Matrices
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4571872/
https://ncbi.nlm.nih.gov/pubmed/26178373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.640425
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