Associated Papers
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
Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations.
Mäki-Marttunen T et al.
Cerebral Cortex (new York, N.y. : 1991), 2019
Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study.
Mäki-Marttunen T et al.
Biological Psychiatry. Cognitive Neuroscience and Neuroimaging, 2016
The plasma membrane calcium pump in health and disease.
Brini M et al.
The Febs Journal, 2013
Two ENU-induced alleles of Atp2b2 cause deafness in mice.
Carpinelli MR et al.
Plos One, 2013
Hair cells, plasma membrane Ca²⁺ ATPase and deafness.
Giacomello M et al.
The International Journal of Biochemistry & Cell Biology, 2012
The plasma membrane calcium pump in the hearing process: physiology and pathology.
Carafoli E
Science China. Life Sciences, 2011
Identification of a novel point mutation of mouse Atp2b2 induced by N-ethyl-N-nitrosourea mutagenesis.
Xu L et al.
Experimental Animals, 2011
Life and death of sensory hair cells expressing constitutively active TRPML3.
Grimm C et al.
The Journal of Biological Chemistry, 2009
Insertion of an intracisternal A particle retrotransposon element in plasma membrane calcium ATPase 2 gene attenuates its expression and produces an ataxic phenotype in joggle mutant mice.
Sun XY et al.
Gene, 2008
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
Ficarella R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Molecular determinants for differential membrane trafficking of PMCA1 and PMCA2 in mammalian hair cells.
Grati M et al.
Journal of Cell Science, 2006
Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice.
Street VA et al.
Nature Genetics, 1998