Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis (Q36221916)

12 August 2017

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis (English)

1 reference

12 August 2017

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3

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12 August 2017

10

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12 August 2017

Luisa Montecchi-Palazzi

Luisa Montecchi-Palazzi

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Sabina Barresi

Sabina Barresi

5

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Ginevra Zanni

Ginevra Zanni

1

0 references

Tito Calì

Tito Calì

2

0 references

Marisa Brini

Marisa Brini

11

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Ernesto Carafoli

Ernesto Carafoli

12

0 references

Denis Ottolini

4

Denis Ottolini

1 reference

12 August 2017

9

Jamel Chelly

1 reference

12 August 2017

Nicolas Lebrun

6

1 reference

12 August 2017

Luisa Montecchi-Palazzi

7

1 reference

12 August 2017

Hao Hu

8

1 reference

12 August 2017

language of work or name

English

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publication date

21 August 2012

1 reference

Proceedings of the National Academy of Sciences of the United States of America

12 August 2017

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12 August 2017

109

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12 August 2017

36

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12 August 2017

14514-14519

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Mutations in PMCA2 and hereditary deafness: a molecular analysis of the pump defect.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

X-linked disorders with cerebellar dysgenesis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Joubert Syndrome and related disorders

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

KCa channels as therapeutic targets in episodic ataxia type-2

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Calcium/calmodulin-dependent serine protein kinase and mental retardation.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Calcium pumps in health and disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Emerging pathogenic pathways in the spinocerebellar ataxias

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Plasma membrane Ca(2+)-ATPase: from a housekeeping function to a versatile signaling role.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Inhibitory interaction of the 14-3-3 proteins with ubiquitous (PMCA1) and tissue-specific (PMCA3) isoforms of the plasma membrane Ca2+ pump

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Perisynaptic organization of plasma membrane calcium pumps in cerebellar cortex

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Caveolae and calcium handling, a review and a hypothesis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

The Homer-1 protein Ania-3 interacts with the plasma membrane calcium pump

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Changes in the expression of plasma membrane calcium extrusion systems during the maturation of hippocampal neurons

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Inhibitory interaction of the 14-3-3{epsilon} protein with isoform 4 of the plasma membrane Ca(2+)-ATPase pump

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

UCSF Chimera--a visualization system for exploratory research and analysis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Subcellular distribution of Homer 1b/c in relation to endoplasmic reticulum and plasma membrane proteins in Purkinje neurons

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Interaction of the plasma membrane Ca2+ pump 4b/CI with the Ca2+/calmodulin-dependent membrane-associated kinase CASK

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1).

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Effects of PMCA and SERCA pump overexpression on the kinetics of cell Ca(2+) signalling.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Abnormal synaptic architecture in the cerebellar cortex of a new dystonic mutant mouse, Wriggle Mouse Sagami

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

The calmodulin-binding site of the plasma membrane Ca2+ pump interacts with the transduction domain of the enzyme

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Non-progressive congenital ataxias.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Reduced expression of the Ca(2+) transporter protein PMCA2 slows Ca(2+) dynamics in mouse cerebellar Purkinje neurones and alters the precision of motor coordination.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

A comparative functional analysis of plasma membrane Ca2+ pump isoforms in intact cells

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Asp1080 upstream of the calmodulin-binding domain is critical for autoinhibition of hPMCA4b

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Tryptophan 1093 is largely responsible for the slow off rate of calmodulin from plasma membrane Ca2+ pump 4b.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Non-progressive ataxia: origins, brain pathology and impairments in 78 swedish children.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Transfected aequorin in the measurement of cytosolic Ca2+ concentration ([Ca2+]c). A critical evaluation.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437887

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

22 September 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1207488109

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1207488109

Localization of the plasma membrane Ca2+-ATPase isoform PMCA3 in rat cerebellum, choroid plexus and hippocampus

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1207488109

Autosomal recessive congenital cerebellar atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1207488109

X-linked congenital ataxia: A clinical and genetic study

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22912398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

188 Cases of Non-Progressive Ataxic Syndromes in Childhood – Aspects of aetiology and classification

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22912398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The plasma membrane Ca2+ pump contains a site that interacts with its calmodulin-binding domain

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22912398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1207488109

1 reference

12 August 2017

0 references

1 reference

12 August 2017

1 reference