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Article

Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages.

The Journal of biological chemistry - 5 May 2006

Wenstrup Richard J, Florer Jane B, Davidson Jeffrey M, Phillips Charlotte L, Pfeiffer Brent J, Menezes Diana W, Chervoneva Inna, Birk David E

Abstract excerpt

The most commonly identified mutations causing Ehlers-Danlos syndrome (EDS) classic type result in haploinsufficiency of proalpha1(V) chains of type V collagen, a quantitatively minor collagen that co-assembles with type I collagen as heterotypic fibrils. To determine the role(s) of type I/V collagen interactions in fibrillogenesis and elucidate the mechanism whereby half-reduction of type V collagen causes...

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PMID: 16492673
DOI: 10.1074/jbc.M511528200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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