A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect-Reference-Cited by-同舟云学术

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A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

Published:2017-12 Issue:12 Volume:1863 Page:3303-3312
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Vicario Mattia,Calì Tito,Cieri Domenico,Vallese Francesca,Bortolotto Raissa,Lopreiato Raffaele,Zonta Francesco,Nardella Marta,Micalizzi Alessia,Lefeber Dirk J.,Valente Enza Maria,Bertini Enrico,Zanotti Giuseppe,Zanni Ginevra,Brini Marisa,Carafoli Ernesto

Funder

Ministry of University and Research

Università degli Studi di Padova

Progetto di Ateneo 2016

Progetto di Ateneo 2015

European Research Council Starting

Italian Ministry of Health, Ricerca Finalizzata

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference45 articles.

1. The plasma membrane calcium pump: new ways to look at an old enzyme;Lopreiato;J. Biol. Chem.,2014

2. The plasma membrane calcium pumps: focus on the role in (neuro)pathology;Brini;Biochem. Bioph. Res. Co.,2016

3. Plasma membrane calcium pump (PMCA4)-neuronal nitric-oxide synthase complex regulates cardiac contractility through modulation of a compartmentalized cyclic nucleotide microdomain;Mohamed;J. Biol. Chem.,2011

4. Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deaf waddler mice;Street;Nat. Genet.,1998

5. A point mutation in a plasma membrane Ca(2+)-ATPase gene causes deafness in wriggle mouse Sagami;Takahashi;Biochem. Biophys. Res. Commun.,1999

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