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Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects

In a screen for organogenesis defects in N-ethyl-N-nitrosourea (ENU)-induced mutant mice, we discovered a line carrying a mutation in Colgalt1 [collagen beta(1-O)galactosyltransferase type 1], which is required for proper galactosylation of hydroxylysine residues in a number of collagens. Colgalt1 m...

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Detalles Bibliográficos
Autores principales: Geister, Krista A., Lopez-Jimenez, Alberto Jose, Houghtaling, Scott, Ho, Tzu-Hua, Vanacore, Roberto, Beier, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602307/
https://www.ncbi.nlm.nih.gov/pubmed/31101663
http://dx.doi.org/10.1242/dmm.037176