CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity

CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity

Abstract Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance of SCA8, we studied the molecular differences betwe...

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Autores principales: Barbara A Perez, Hannah K Shorrock, Monica Banez‐Coronel, Tao Zu, Lisa EL Romano, Lauren A Laboissonniere, Tammy Reid, Yoshio Ikeda, Kaalak Reddy, Christopher M Gomez, Thomas Bird, Tetsuo Ashizawa, Lawrence J Schut, Alfredo Brusco, J Andrew Berglund, Lis F Hasholt, Jorgen E Nielsen, SH Subramony, Laura PW Ranum
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
cis‐modifier
RAN translation
reduced penetrance
sequence interruptions
spinocerebellar ataxia type 8
Medicine (General)
R5-920
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/33aca9ac8dc84150a7d6116bee01440f
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https://doaj.org/article/33aca9ac8dc84150a7d6116bee01440f

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