Article

Development of a novel oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

2022-11-04

Abstract excerpt

Familial Dysautonomia (FD) is a rare neurodegenerative disease caused by a splicing mutation in the Elongator complex protein 1 gene ( ELP1 ). This mutation leads to the skipping of exon 20 and a tissue-specific reduction of ELP1 protein, mainly in the central and peripheral nervous systems. FD is a complex neurological disorder accompanied by severe gait ataxia and retinal degeneration. There is currently no eff...

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Literature Corpus work: 4a389bfe-dace-5fed-8f61-0796c06f4d0c
DOI: 10.1101/2022.11.04.515198

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