A Rab33b missense mouse model for Smith-McCort dysplasia shows bone resorption defects and altered protein glycosylation

A Rab33b missense mouse model for Smith-McCort dysplasia shows bone resorption defects and altered protein glycosylation

Smith McCort (SMC) dysplasia is a rare, autosomal recessive, osteochondrodysplasia that can be caused by pathogenic variants in either RAB33B or DYM genes. These genes codes for proteins that are located at the Golgi apparatus and have a role in intracellular vesicle trafficking. We generated mice t...

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Bibliographic Details
Main Authors: Milena Dimori, Irina D. Pokrovskaya, Shijie Liu, John T. Sherrill, Horacio Gomez-Acevedo, Qiang Fu, Brian Storrie, Vladimir V. Lupashin, Roy Morello
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Genetics
Subjects:
Smith-McCort dysplasia
RAB33B
GTPases
bone
Golgi
glycosylation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1204296/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1204296/full

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