Associated Papers
Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease.
Lin GY et al.
Metabolic Brain Disease, 2022
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
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
An update on carbonic anhydrase-related proteins VIII, X and XI.
Aspatwar A et al.
Journal of Enzyme Inhibition and Medicinal Chemistry, 2013
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
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