Expression and Functional Study of Single Mutations of Carbonic Anhydrase 8 in Neuronal Cells
Sign Up to like & getrecommendations! Published in 2020 at "Cellular and Molecular Neurobiology"
DOI: 10.1007/s10571-020-00907-1
Abstract: Carbonic anhydrase 8 (CA8), an isozyme of α-carbonic anhydrases, lacks the ability to catalyze the reversible hydration of CO 2 to bicarbonate and proton. Previous studies have shown that single point mutations of CA8, CA8-S100P,… read more here.
Keywords: neuronal cells; ca8 g162r; s100p ca8; ca8 s100p ... See more keywords
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13666
Abstract: Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases… read more here.
Keywords: cerebellar ataxia; variant ca8; truncating variant; ca8 ... See more keywords