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

• المؤلفون الرئيسيون: Krista A. Geister (مؤلف), Alberto Jose Lopez-Jimenez (مؤلف), Scott Houghtaling (مؤلف), Tzu-Hua Ho (مؤلف), Roberto Vanacore (مؤلف), David R. Beier (مؤلف)
• التنسيق: كتاب
• منشور في: The Company of Biologists, 2019-06-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

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...