ATP2B3

Publications

Bertini E et al. X-linked congenital ataxia: a clinical and genetic study. Am J Med Genet. 2000;92(1):53-6. PMID: 10797423

Calì T et al. A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations. J Biol Chem. 2015;290(26):16132-41. PMID: 25953895

Feyma T et al. Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia. Mov Disord. 2016;31(11):1752-1753. PMID: 27653636

Vicario M et al. A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. Biochim Biophys Acta Mol Basis Dis. 2017;1863(12):3303-3312. PMID: 28807751

Zanni G et al. Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci U S A. 2012;109(36):14514-9. PMID: 22912398