Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)-Reference-Cited by-同舟云学术

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

Published:2019-08-13 Issue:5 Volume:18 Page:972-975
ISSN:1473-4222
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

Ciaccio Claudia^ORCID, ,Castello Raffaele,Esposito Silvia,Pinelli Michele,Nigro Vincenzo,Casari Giorgio,Chiapparini Luisa,Pantaleoni Chiara,D’Arrigo Stefano

Funder

Fondazione Telethon

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s12311-019-01069-7.pdf

Reference4 articles.

1. Gómez-Herreros F, Schuurs-Hoeijmakers JH, McCormack M, Greally MT, Rulten S, Romero-Granados R, et al. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nat Genet. 2014;46(5):516–21.

2. Zagnoli-Vieira G, Bruni F, Thompson K, He L, Walker S, de Brouwer APM, et al. Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23). Neurol Genet. 2018;4(4):e262.

3. Gómez-Herreros F, Romero-Granados R, Zeng Z, Alvarez-Quilón A, Quintero C, Ju L, et al. TDP2-dependent non-homologous end-joining protects against topoisomerase II-induced DNA breaks and genome instability in cells and in vivo. PLoS Genet. 2013;9(3):e1003226.