Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene

Mutations, mostly in the region of the COL10A1 gene encoding the C-terminal non-collagenous domain, cause the dwarfism metaphyseal chondrodysplasia type Schmid (MCDS). In most cases, the disease mechanism involves the misfolding of the mutant protein causing increased endoplasmic reticulum (ER) stre...

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Detalles Bibliográficos
Autores principales: Forouhan, Mitra, Sonntag, Stephan, Boot-Handford, Raymond P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216233/
https://www.ncbi.nlm.nih.gov/pubmed/30010889
http://dx.doi.org/10.1093/hmg/ddy253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216233/
https://www.ncbi.nlm.nih.gov/pubmed/30010889
http://dx.doi.org/10.1093/hmg/ddy253

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