Mutation of plasma membrane Ca ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca homeostasis
نویسندگان
چکیده
Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children’s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), 00165 Rome, Italy; Department of Comparative Biomedicine and Food Science, University of Padova, 35131 Padua, Italy; Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, D-14195 Berlin, Germany; Department of Biomedical Sciences, University of Padova, 35131 Padua, Italy; Department of Genetic and Development, Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Recherche (UMR) 8104, 75014 Paris, France; European Bioinformatics Institute (EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom; and Venetian Institute for Molecular Medicine, 35129 Padua, Italy
منابع مشابه
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
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+) homeost...
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