A Novel Mutation in Isoform 3 of the Plasma Membrane Ca(2+) Pump Impairs Cellular Ca(2+) Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

The particular importance of Ca(2+) signaling to neurons demands its precise regulation within their cytoplasm. Isoform 3 of the plasma membrane Ca(2+) ATPase (the PMCA3 pump), which is highly expressed in brain and cerebellum, plays an important role in the regulation of neuronal Ca(2+). A genetic...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Biol Chem
Prif Awduron: Calì, Tito, Lopreiato, Raffaele, Shimony, Joshua, Vineyard, Marisa, Frizzarin, Martina, Zanni, Ginevra, Zanotti, Giuseppe, Brini, Marisa, Shinawi, Marwan, Carafoli, Ernesto
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Biochemistry and Molecular Biology 2015
Pynciau:
Molecular Bases of Disease
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4481214/
https://ncbi.nlm.nih.gov/pubmed/25953895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.656496
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