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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Main Authors: 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
Format: Article
Language:English
Published: Springer Nature 2021-10-01
Series:EMBO Molecular Medicine
Subjects:
cis‐modifier
RAN translation
reduced penetrance
sequence interruptions
spinocerebellar ataxia type 8
Online Access:https://doi.org/10.15252/emmm.202114095
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https://doi.org/10.15252/emmm.202114095

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