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  1. Article

    Open Access

    An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

    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 fib...

    Florian Krach, Judith Stemick, Tom Boerstler, Alexander Weiss… in Nature Communications (2022)

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  2. Article

    Open Access

    Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis

    Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by aberrant alternative splicing (AS). Nuclear loss and cytoplasmic accumulation of the splicing factor TDP-43 in motor neurons (MN) are hal...

    Florian Krach, Emily C. Wheeler, Martin Regensburger… in Acta Neuropathologica (2022)

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