Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s10038-020-0800-4.pdf
Reference15 articles.
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4. 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;46:516–21.
5. Kont YS, Dutta A, Mallisetty A, Mathew J, Minas T, Kraus C, et al. Depletion of tyrosyl DNA phosphodiesterase 2 activity enhances etoposide-mediated double-strand break formation and cell killing. DNA Repair (Amst). 2016;43:38–47.
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1. Tyrosyl-DNA phosphodiesterase 2 (Tdp2) repairs DNA-protein crosslinks and protects against double strand breaks in vivo;Frontiers in Cell and Developmental Biology;2024-08-20
2. A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report;Neurological Sciences;2024-03-04
3. Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia;Human Genetics;2023-08-10
4. Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis;Neurobiology of Aging;2023-02
5. Mechanisms of DNA damage‐mediated neurotoxicity in neurodegenerative disease;EMBO reports;2022-05-02
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