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Article

Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype.

Journal of molecular neuroscience : MN - 1 Sept 2021

Martins Ana Carolina, Rieck Mariana, Leotti Vanessa Bielefeldt, Saraiva-Pereira Maria Luiza, Jardim Laura Bannach

Abstract excerpt

Calpain-mediated proteolysis has been proposed to modulate the pathogenesis of spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD), a disorder due to a CAG repeat expansion (CAGexp) at ATXN3. We aimed to investigate if single-nucleotide polymorphisms (SNPs) at calpain gene CAPN2 and at calpastatin gene CAST modulate the age at onset (AO) and disease progression in SCA3/MJD. A total of...

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PMID: 34191270
DOI: 10.1007/s12031-021-01877-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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