Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48)

Abstract Background Heterozygous pathogenic variants in STUB1 are implicated in autosomal dominant spinocerebellar ataxia type 48 (SCA48), which is a rare familial ataxia disorder. We investigated the clinical, genetic and functional characteristics of STUB1 mutations identified from a Taiwanese ata...

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Principais autores:	Huan-Yun Chen, Chia-Lang Hsu, Han-Yi Lin, Yung-Feng Lin, Shih-Feng Tsai, Yu-Jung Ho, Ye-Ru Li, Jin-Wu Tsai, Shu-Chun Teng, Chin-Hsien Lin
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2021-09-01
coleção:	Journal of Biomedical Science
Assuntos:	Spinocerebellar ataxia type 48 Ataxia CHIP STUB1 Tau α-Synuclein
Acesso em linha:	https://doi.org/10.1186/s12929-021-00763-1
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