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

Abstract 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 aut...

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Auteurs principaux:	Ophélie Gourgas, Gabrielle Lemire, Alison J. Eaton, Sultanah Alshahrani, Angela L. Duker, Jingjing Li, Ricki S. Carroll, Stuart Mackenzie, Sarah M. Nikkel, Care4Rare Canada Consortium, Michael B. Bober, Kym M. Boycott, Monzur Murshed
Format:	Artigo
Langue:	Inglês
Publié:	Nature Portfolio 2023-11-01
Collection:	Nature Communications
Accès en ligne:	https://doi.org/10.1038/s41467-023-41651-6
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