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...
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: | |
Online Access: | http://dmm.biologists.org/content/12/6/dmm037176 |
Similar Items
-
Genetic and Epigenetic Aspects of Skin Collagen Fiber Turnover and Functioning
by: Nikolay N. Potekaev, et al.
Published: (2021-09-01) -
Bethlem myopathy demonstrated in three generations of a rural West Virginia family carrying an autosomal dominant COL6A3 mutation
by: Holly Farkosh, et al.
Published: (2021-07-01) -
Glt25d2 Knockout Directly Increases CD25+CD69– but Decreases CD25–CD69+ Subset Proliferation and is Involved in Concanavalin-Induced Hepatitis
by: Xiaohua Hao, et al.
Published: (2018-10-01) -
Identification and In Silico Characterization of a Novel <i>COLGALT2</i> Gene Variant in a Child with Mucosal Rectal Prolapse
by: Anna Sadakierska-Chudy, et al.
Published: (2022-03-01) -
Unsuccessful tracheal intubation in a patient with Kniest dysplasia undergoing repeated general anesthesia: a case report
by: Maiko Hasegawa-Moriyama, et al.
Published: (2018-05-01)