Associated Papers
Calmodulin Interaction Interface with Plasma Membrane Ca2+-ATPase Isoforms: An Integrative Bioinformatic Analysis.
Martínez-Fresneda M et al.
International Journal of Molecular Sciences, 2025
Plasma membrane calcium ATPases and cerebellar pathology: what's the role in the ataxia?
Peggion C et al.
Biology Direct, 2025
ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.
Ogunbileje JO et al.
Journal of Personalized Medicine, 2024
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
Mir A et al.
Bmc Medical Genomics, 2023
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.
Vallese F et al.
Cell Death & Disease, 2022
The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.
Gandini MA et al.
Molecular Brain, 2021
Rare CACNA1A mutations leading to congenital ataxia.
Izquierdo-Serra M et al.
Pflugers Archiv : European Journal of Physiology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Evidence for a role of plasma membrane calcium pumps in neurodegenerative disease: Recent developments.
Strehler EE et al.
Neuroscience Letters, 2018
The ataxia related G1107D mutation of the plasma membrane Ca2+ ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process.
Calì T et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
Feyma T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.
Figueroa KP et al.
Disease Models & Mechanisms, 2016
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
Protasova MS et al.
European Journal of Human Genetics : Ejhg, 2016
The plasma membrane calcium pump in health and disease.
Brini M et al.
The Febs Journal, 2013
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
Zanni G et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012