Article
Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia.
Neurobiology of disease - 1 Sept 2024
Arnskötter Frederik, da Silva Patricia Benites Goncalves, Schouw Mackenna E, Lukasch Chiara, Bianchini Luca, Sieber Laura, Garcia-Lopez Jesus, Ahmad Shiekh Tanveer, Li Yiran, Lin Hong, Joshi Piyush, Spänig Lisa, Radoš Magdalena, Roiuk Mykola, Sepp Mari, Zuckermann Marc, Northcott Paul A, Patrizi Annarita, Kutscher Lena M
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 also been described. Although ELP1 expression remains high in the normal developing and adult cerebellum, its role in cerebellar...
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