Associated Papers
Calmodulin Interaction Interface with Plasma Membrane Ca2+-ATPase Isoforms: An Integrative Bioinformatic Analysis.
Martínez-Fresneda M et al.
International Journal of Molecular Sciences, 2025
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.
Stehr AM et al.
Clinical Genetics, 2025
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Poggio E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.
Vicario M et al.
Neurobiology of Disease, 2018
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