Article

<i>MSH3</i> is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

2025-05-16

Abstract excerpt

X-linked dystonia parkinsonism (XDP) is a progressive adult-onset neurogenerative disorder caused by the insertion of a SINE-VNTR-Alu (SVA) retrotransposon in TAF1 gene. One element of the SVA is a tandem polymorphic CCCTCT repeat tract whose length inversely correlates with the age of disease onset. Previous observations that the repeat exhibits length-dependent somatic expansion and that XDP onset is modified b...

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Literature Corpus work: 75be73bc-909d-58d6-80fb-67506898d19e
DOI: 10.1101/2025.05.14.653432

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