Article
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
Proceedings of the National Academy of Sciences of the United States of America - 4 Sept 2012
Zanni Ginevra, Calì Tito, Kalscheuer Vera M, Ottolini Denis, Barresi Sabina, Lebrun Nicolas, Montecchi-Palazzi Luisa, Hu Hao, Chelly Jamel, Bertini Enrico, Brini Marisa, Carafoli Ernesto
Abstract excerpt
Ca(2+) in neurons is vital to processes such as neurotransmission, neurotoxicity, synaptic development, and gene expression. Disruption of Ca(2+) homeostasis occurs in brain aging and in neurodegenerative disorders. Membrane transporters, among them the calmodulin (CaM)-activated plasma membrane Ca(2+) ATPases (PMCAs) that extrude Ca(2+) from the cell, play a key role in neuronal Ca(2+) homeostasis. Using X-exome...
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