Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado

Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

Published:2019-10-05 Issue:1 Volume:22 Page:133-138
ISSN:1535-1084
Container-title:NeuroMolecular Medicine
language:en
Short-container-title:Neuromol Med

Author:

Mergener Rafaella^ORCID,Furtado Gabriel Vasata^ORCID,de Mattos Eduardo Preusser^ORCID,Leotti Vanessa Bielefeldt^ORCID,Jardim Laura Bannach^ORCID,Saraiva-Pereira Maria Luiza^ORCID

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundo de Incentivo a Pesquisa - Hospital de Clinicas de Porto Alegre

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12017-019-08572-4.pdf

Reference27 articles.

1. Abraham, K. J., Chan, J. N., Salvi, J. S., Ho, B., Hall, A., Vidya, E., et al. (2016). Intersection of calorie restriction and magnesium in the suppression of genome-destabilizing RNA–DNA hybrids. Nucleic Acids Research,44, 8870–8884.

2. Bettencourt, C., Hensman-Moss, D., Flower, M., Wiethoff, S., Brice, A., Goizet, C., et al. (2016). DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Annals of Neurology,79, 983–990.

3. Bettencourt, C., Raposo, M., Kazachkova, N., Santos, C., Kay, T., Vasconcelos, J., et al. (2012). Sequence analysis of 5′ regulatory regions of the Machado–Joseph disease gene (ATXN3). Cerebellum,11, 1045–1050.

4. de Castilhos, R. M., Furtado, G. V., Gheno, T. C., Schaeffer, P., Russo, A., Barsottini, O., et al. (2014). Spinocerebellar ataxias in Brazil—Frequencies and modulating effects of related genes. Cerebellum,13, 17–28.

5. de Mattos, E. P., Leotti, V. B., Soong, B. W., Raposo, M., Lima, M., Vasconcelos, J., et al. (2018a). Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin. European Journal of Neurology,26, 113–120.

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4. Caffeine consumption and interaction with ADORA2A, CYP1A2 and NOS1 variants do not influence age at onset of Machado-Joseph disease;2024-05-02

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