Associated Papers
Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease.
Lin GY et al.
Metabolic Brain Disease, 2022
Reversion mutation of cDNA CA8-204 minigene construct produces a truncated functional peptide that regulates calcium release in vitro and produces profound analgesia in vivo.
Upadhyay U et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2020
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
Paternoster L et al.
American Journal of Medical Genetics. Part A, 2020
Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function.
Sanyanga TA et al.
International Journal of Molecular Sciences, 2020
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
Richmond CM et al.
Clinical Genetics, 2020
Profound analgesia is associated with a truncated peptide resulting from tissue specific alternative splicing of DRG CA8-204 regulated by an exon-level cis-eQTL.
Upadhyay U et al.
Plos Genetics, 2019
Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29.
Ando H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Human carbonic anhydrase-8 AAV8 gene therapy inhibits nerve growth factor signaling producing prolonged analgesia and anti-hyperalgesia in mice.
Zhuang GZ et al.
Gene Therapy, 2018
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
Tada M et al.
Neurochemistry International, 2016
Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.
Aspatwar A et al.
Human Molecular Genetics, 2013
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
Kaya N et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
Türkmen S et al.
Plos Genetics, 2009