Article

Correction of RBFOX1 deficit rescues Huntington’s disease mis-splicing and pathology

2024-11-07

Abstract excerpt

RNA mis-splicing correction therapies have been developed for neurological disorders like spinal muscular atrophy and neuronal ceroid lipofuscinosis. In Huntington’s disease (HD), pathogenic mis-splicing was initially observed in genes linked to neurodegeneration, such as HTT itself, MAPT , and TAF1 . Later, genome-wide analyses identified a broader mis-splicing signature in HD brains, involving additional neur...

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Literature Corpus work: 3ef7bb97-10b2-530e-bea2-d469e4d39a6c
DOI: 10.1101/2024.11.06.622223

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