Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

Matrix Gla protein (MGP) is a vitamin K-dependent post-translationally modified protein, highly expressed in vascular and cartilaginous tissues. It is a potent inhibitor of extracellular matrix mineralization. Biallelic loss-of-function variants in the MGP gene cause Keutel syndrome, an autosomal re...

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Detalles Bibliográficos
Autores principales: Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison L., Alshahrani, Sultanah, Duker, Angela L., Li, Jingjing, Carroll, Ricki S., Mackenzie, Stuart, Nikkel, Sarah M., Bober, Michael B., Boycott, Kym M., Murshed, Monzur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10624854/
https://www.ncbi.nlm.nih.gov/pubmed/37923733
http://dx.doi.org/10.1038/s41467-023-41651-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10624854/
https://www.ncbi.nlm.nih.gov/pubmed/37923733
http://dx.doi.org/10.1038/s41467-023-41651-6

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