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

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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Bibliographic Details
Main Authors: Krista A. Geister, Alberto Jose Lopez-Jimenez, Scott Houghtaling, Tzu-Hua Ho, Roberto Vanacore, David R. Beier
Format: Article
Language:English
Published: The Company of Biologists 2019-06-01
Series:Disease Models & Mechanisms
Subjects:
ENU
Collagen glycosylation
Collagenopathies
Myopathy
GLT25D1
Online Access:http://dmm.biologists.org/content/12/6/dmm037176

Internet

http://dmm.biologists.org/content/12/6/dmm037176

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