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Mutated ATXN3 activates MBNL1. 1 / 1

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"The most recent results from our laboratory show that in human HD and SCA3 fibroblasts, the expression of endogenous HTT and ATXN3 mutant transcripts causes the formation of CAG repeat foci and MBNL1 sequestration, which in turn trigger the aberrant splicing of endogenous sarco and endoplasmic reticulum Ca2+ ATPase 1 (SERCA1) and INSR transcripts."

21908410

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Mutated ATXN3 activates MBNL1. 1 / 1

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