Article

GGC expansion in<i>ZFHX3</i>causes SCA4 and impairs autophagy

2023-10-28

Abstract excerpt

Despite linkage to 16q in 1996, the mutation for spinocerebellar ataxia type 4 (SCA4), a late-onset sensory and cerebellar ataxia, escaped detection for 25 years. Using long- read PacBio-HiFi and ONT-Nanopre sequencing and bioinformatic analysis, we identified expansion of a GGC DNA repeat in a >85% GC-rich region in exon 10 of the ZFHX3 gene coding for poly-glycine (polyG). In a total of 15 nuclear families from...

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Literature Corpus work: 1a215e4e-02d2-59b1-8b01-b95f602e1625
DOI: 10.1101/2023.10.26.23297560

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