An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Hun...
An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons
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London: Nature Publishing Group UK
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English
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Publisher
London: Nature Publishing Group UK
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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 recapitu...
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Full title
An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons
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TN_cdi_doaj_primary_oai_doaj_org_article_de498125578b4e53ac4080e1dc3242e6
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_de498125578b4e53ac4080e1dc3242e6
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-022-34419-x
