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Mutations in GEMIN5 cause a neurodevelopmental ataxia syndrome by a loss-of-1function mechanism

ABSTRACT: GEMIN5 is a critical component of snRNP assembly complex. Patients carrying novel autosomal recessive variants in the GEMIN5 gene showed symptoms of developmental delay, central hypotonia, and cerebellar ataxia which are distinct than classical spinal muscular atrophy. We performed RNA-seq analysis in iPSC-derived differentiated neurons with biallelic GEMIN5-H913R mutation to identify global alterations in various genes and pathways mediated by GEMIN5 mutations in patients.

ORGANISM(S): Homo sapiens

PROVIDER: GSE168622 | GEO | 2021/03/11

REPOSITORIES: GEO

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