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An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington's disease patient neurons - Nature Communications

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An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington's disease patient neurons - Nature Communications

Huntington's disease (HD) is a neurodegenerative disorder caused by poly-Q expansion in the Huntingtin (HTT) protein. Here, we delineate elevated mutant HTT (mHTT) levels in patient-derived cells including fibroblasts and iPSC derived cortical neurons using mesoscale discovery (MSD) HTT assays. HD patients' fibroblasts and cortical neurons recapitulate aberrant alternative splicing as a molecular fingerprint of HD.

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An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington's disease patient neurons - Nature Communications

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An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington's disease patient neurons - Nature Communications

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