Article

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia

2021-06-06

Abstract excerpt

Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease caused by a splicing mutation in the gene encoding Elongator complex protein 1 ( ELP1 , also known as IKBKAP ). This mutation results in tissue-specific skipping of exon 20 with a corresponding reduction of ELP1 protein, predominantly in the central and peripheral nervous system. Although FD patients have a complex neurological phenot...

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Literature Corpus work: 354acef9-010a-593d-8478-cbe77a1cd8bf
DOI: 10.1101/2021.06.04.447086

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