Drosophila Col4a1 Glycine mutations highlight allelic heterogeneity and mechanistic pleiotropy.

doi:10.1016/j.matbio.2025.07.005

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Article

Drosophila Col4a1 Glycine mutations highlight allelic heterogeneity and mechanistic pleiotropy.

Matrix biology : journal of the International Society for Matrix Biology - 1 Sept 2025

Nichols Angus, Sánchez-Sánchez Besaiz J, Marcotti Stefania, Díaz-de-la-Loza María-Del-Carmen, Menezes Leonel C, Wang Tingfei, Johnson Robert M, Stramer Brian M

Abstract excerpt

Collagen IV (Col4) is a heterotrimer containing a triple helical domain broken up by short interruptions. Mutation of Glycine residues within the Glycine-X-Y triple helical repeat leads to genetically dominant disease in humans that affects multiple organ systems. Mouse and cell culture-based models have revealed allelic heterogeneity, resulting in a range of Col4 secretion defects depending on the position of...

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PMID: 40701333
DOI: 10.1016/j.matbio.2025.07.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.