Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityCellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disordersA Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ InfluxDeep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genesDystonia in ATP2B3-associated X-linked spinocerebellar ataxia.Multiple Calcium Export Exchangers and Pumps Are a Prominent Feature of Enamel Organ Cells.A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi familiesScreening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.Genes and genetic testing in hereditary ataxias.Presynaptic control of glycine transporter 2 (GlyT2) by physical and functional association with plasma membrane Ca2+-ATPase (PMCA) and Na+-Ca2+ exchanger (NCX)Plasma membrane calcium ATPases as novel candidates for therapeutic agent developmentA Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α MutationsSpontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.Amarcord: I remember.Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a modelExome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.The plasma membrane calcium pump in health and disease.Neuronal calcium signaling: function and dysfunction.Regional brain dysregulation of Ca(2+)-handling systems in ketamine-induced rat model of experimental psychosisCellular and circuit mechanisms underlying spinocerebellar ataxias.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.The Plasma Membrane Calcium ATPases and Their Role as Major New Players in Human Disease.Neuroplastin deletion in glutamatergic neurons impairs selective brain functions and calcium regulation: implication for cognitive deterioration.Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.PMCA4 (ATP2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion.Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.Central and Peripheral Nervous System Progenitors Derived from Human Pluripotent Stem Cells Reveal a Unique Temporal and Cell-Type Specific Expression of PMCAs.Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Evidence for a role of plasma membrane calcium pumps in neurodegenerative disease: Recent developments.
P2860
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P2860
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Mutation of plasma membrane Ca ...... axia impairs Ca2+ homeostasis.
@ast
Mutation of plasma membrane Ca ...... axia impairs Ca2+ homeostasis.
@en
type
label
Mutation of plasma membrane Ca ...... axia impairs Ca2+ homeostasis.
@ast
Mutation of plasma membrane Ca ...... axia impairs Ca2+ homeostasis.
@en
prefLabel
Mutation of plasma membrane Ca ...... axia impairs Ca2+ homeostasis.
@ast
Mutation of plasma membrane Ca ...... axia impairs Ca2+ homeostasis.
@en
P2093
P2860
P50
P356
P1476
Mutation of plasma membrane Ca ...... axia impairs Ca2+ homeostasis.
@en
P2093
Denis Ottolini
Jamel Chelly
Luisa Montecchi-Palazzi
Nicolas Lebrun
P2860
P304
14514-14519
P356
10.1073/PNAS.1207488109
P407
P50
P577
2012-08-21T00:00:00Z