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...

Descripción completa

Guardado en:

Detalles Bibliográficos
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
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

Sea el primero en dejar un comentario!

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

Ejemplares similares