Impaired proteostasis in rare neurological diseases.

作者: Nerea Osinalde , Anna Duarri , Juanma Ramirez , Rosa Barrio , Guiomar Perez de Nanclares

DOI: 10.1016/J.SEMCDB.2018.10.007

关键词:

摘要: … The E1 enzyme UBA1 is implicated in the aetiology of X-linked infantile spinal muscular atrophy (XL-SMA) [46], and mutations in the E2 enzyme UBE2 A result in UBE2 A deficiency …

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