Article
A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.
Neurobiology of disease - 1 Jul 2018
Vicario Mattia, Zanni Ginevra, Vallese Francesca, Santorelli Filippo, Grinzato Alessandro, Cieri Domenico, Berto Paola, Frizzarin Martina, Lopreiato Raffaele, Zonta Francesco, Ferro Stefania, Sandre Michele, Marin Oriano, Ruzzene Maria, Bertini Enrico, Zanotti Giuseppe, Brini Marisa, Calì Tito, Carafoli Ernesto
Abstract excerpt
The fine regulation of intracellular calcium is fundamental for all eukaryotic cells. In neurons, Ca2+ oscillations govern the synaptic development, the release of neurotransmitters and the expression of several genes. Alterations of Ca2+ homeostasis were found to play a pivotal role in neurodegenerative progression. The maintenance of proper Ca2+ signaling in neurons demands the continuous activity of Ca2+ pumps...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.