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Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model Investigation

Carbohydrate sulfotransferase 14 (CHST14) encodes dermatan 4-O-sulfotransferase 1, a critical enzyme for dermatan sulfate (DS) biosynthesis. Musculocontractural Ehlers-Danlos syndrome (mcEDS) is associated with biallelic pathogenic variants of CHST14 and is characterized by malformations and manifes...

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Detalles Bibliográficos
Autores principales: Nitahara-Kasahara, Yuko, Posadas-Herrera, Guillermo, Mizumoto, Shuji, Nakamura-Takahashi, Aki, Inoue, Yukiko U., Inoue, Takayoshi, Nomura, Yoshihiro, Takeda, Shin’ichi, Yamada, Shuhei, Kosho, Tomoki, Okada, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542786/
https://www.ncbi.nlm.nih.gov/pubmed/34708033
http://dx.doi.org/10.3389/fcell.2021.695021