(Q28118912)

English

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx

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scholarly article

1 reference

4 January 2017

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx (English)

1 reference

4 January 2017

Calcium voltage-gated channel subunit alpha1 A

1 reference

GOA release 2020-03-11

calcium ion transmembrane transport

1 reference

GOA release 2020-03-11

Stephan Ossowski

7

0 references

Anna Marcé-Grau

object named as

Anna Marcé-Grau

5

0 references

object named as

Selma Angèlica Serra

2

0 references

José M Fernández-Fernández

object named as

José M. Fernández-Fernández

9

0 references

author name string

Maria Isabel Bahamonde

1

1 reference

4 January 2017

Oliver Drechsel

3

1 reference

4 January 2017

Rubayte Rahman

4

1 reference

4 January 2017

Marta Prieto

6

1 reference

4 January 2017

Alfons Macaya

8

1 reference

4 January 2017

language of work or name

0 references

publication date

1 January 2015

1 reference

4 January 2017

1 reference

4 January 2017

10

1 reference

4 January 2017

12

1 reference

4 January 2017

e0146035

1 reference

4 January 2017

copyright license

Creative Commons Attribution 4.0 International

30 December 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1

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Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia

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CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

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Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

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Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

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Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics

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Voltage-gated calcium channels

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CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics

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Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma

1 reference

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A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

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Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

1 reference

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20 March 2017

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

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Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity

1 reference

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Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol))

1 reference

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Mechanism underlying unaltered cortical inhibitory synaptic transmission in contrast with enhanced excitatory transmission in CaV2.1 knockin migraine mice

1 reference

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29 September 2017

Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal [Ca2+]i

1 reference

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Evolutionarily conserved intracellular gate of voltage-dependent sodium channels.

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Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

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Pharmacological correction of gating defects in the voltage-gated Ca(v)2.1 Ca²⁺ channel due to a familial hemiplegic migraine mutation.

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Pathophysiology of migraine

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

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Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil

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29 September 2017

Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias

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CaV2.1 channelopathies

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Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

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A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.

1 reference

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29 September 2017

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

1 reference

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29 September 2017

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition

1 reference

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Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels

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Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies

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Episodic ataxia type 2.

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Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia

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P/Q-type calcium channels mediate the activity-dependent feedback of syntaxin-1A.

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Calcium-activated potassium channels are selectively coupled to P/Q-type calcium channels in cerebellar Purkinje neurons.

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Cerebellar ataxia by enhanced Ca(V)2.1 currents is alleviated by Ca2+-dependent K+-channel activators in Cacna1a(S218L) mutant mice.

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Familial and sporadic hemiplegic migraine: diagnosis and treatment

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21 January 2018

Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice

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Intrinsic brain activity triggers trigeminal meningeal afferents in a migraine model

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Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

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Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.

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21 January 2018

Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.

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High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.

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Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia

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Identifiers

10.1371/JOURNAL.PONE.0146035

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2015PLoSO..1046035B

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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