Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia

Raine syndrome, a lethal osteosclerotic bone dysplasia in humans, is caused by loss-of-function mutations in FAM20C; however, Fam20c deficiency in mice does not recapitulate the human disorder, so the underlying pathoetiological mechanisms remain poorly understood. Here we show that FAM20C, in addit...

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Detalles Bibliográficos
Autores principales: Koike, Toshiyasu, Mikami, Tadahisa, Tamura, Jun-Ichi, Kitagawa, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792594/
https://www.ncbi.nlm.nih.gov/pubmed/36572689
http://dx.doi.org/10.1038/s41467-022-35687-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792594/
https://www.ncbi.nlm.nih.gov/pubmed/36572689
http://dx.doi.org/10.1038/s41467-022-35687-3

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