CA8

Publications

Bataller L et al. Carbonic anhydrase-related protein VIII: autoantigen in paraneoplastic cerebellar degeneration. Ann Neurol. 2004; 56(4):575-9. PMID: 15389893.

Jiao Y et al. Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics. 2005; 171(3):1239-46. PMID: 16118194.

Kaya N et al. Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. Am J Med Genet B Neuropsychiatr Genet. 2011; 156b(7):826-34. PMID: 21812104.

Miterko LN et al. Persistent motor dysfunction despite homeostatic rescue of cerebellar morphogenesis in the Car8 waddles mutant mouse. Neural Dev. 2019; 14(1):6. PMID: 30867000.

Najmabadi H et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011; 478(7367):57-63. PMID: 21937992.

Richmond CM et al. Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. Clin Genet. 2020; 97(3):516-520. PMID: 31693170.

Türkmen S et al. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 2009; 5(5):e1000487. PMID: 19461874.