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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Detalles Bibliográficos
Autores principales: Dimori, Milena, Pokrovskaya, Irina D., Liu, Shijie, Sherrill, John T., Gomez-Acevedo, Horacio, Fu, Qiang, Storrie, Brian, Lupashin, Vladimir V., Morello, Roy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285484/
https://www.ncbi.nlm.nih.gov/pubmed/37359363
http://dx.doi.org/10.3389/fgene.2023.1204296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285484/
https://www.ncbi.nlm.nih.gov/pubmed/37359363
http://dx.doi.org/10.3389/fgene.2023.1204296

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