Article

Loss of the Familial Dysautonomia gene <i>Elp1</i> in cerebellar granule cell progenitors leads to ataxia in mice

2024-03-27

Abstract excerpt

Familial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons. While classically characterized by deficits in sensory and autonomic neurons, neuronal defects in the central nervous system have been described. ELP1 is highly expressed in the normal developing and adult cerebellum, but its role in cerebellum development is unk...

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Literature Corpus work: ba73f784-9208-5e6f-a5a2-8354ee521965
DOI: 10.1101/2024.03.27.586801

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