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

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

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

http://www.wikidata.org/entity/Q28139662

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A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.Muscle channelopathies and critical points in functional and genetic studies.Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons.Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission Impact of ESR1 Gene Polymorphisms on Migraine Susceptibility: A Meta-Analysis 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 Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine 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 Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel CACNA1B mutation is linked to unique myoclonus-dystonia syndrome Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects Migraine: new molecular mechanisms.Familial hemiplegic migraine.Molecular endpoints of Ca2+/calmodulin- and voltage-dependent inactivation of Ca(v)1.3 channels A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models.Gain of function in FHM-1 Cav2.1 knock-in mice is related to the shape of the action potential.Molecular determinants of inactivation in voltage-gated Ca2+ channels.The inherited episodic ataxias: how well do we understand the disease mechanisms?The neuronal channelopathies.Genetics of migraine: possible links to neurophysiological abnormalities.Functional roles of cytoplasmic loops and pore lining transmembrane helices in the voltage-dependent inactivation of HVA calcium channels.A single amino acid mutation attenuates rundown of voltage-gated calcium channels.The molecular genetics of migraine.Pathophysiological role of omega pore current in channelopathies Molecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.Voltage-gated calcium channels and idiopathic generalized epilepsies.An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca(2+)-dependent regulation.Optimizing prophylactic treatment of migraine: Subtypes and patient matching.Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies.Neuro-ophthalmologic manifestations of primary headache disorders.The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation.Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.Identification of inactivation determinants in the domain IIS6 region of high voltage-activated calcium channels.Mechanism of dihydropyridine interaction with critical binding residues of L-type Ca2+ channel alpha 1 subunits.Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family.Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.Effects of N-, P/Q- and L-type calcium channel blockers on nociceptive neurones of the trigeminal nucleus with input from the dura.

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P2860

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

http://www.wikidata.org/entity/Q28139662

description

2000 nî lūn-bûn

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2000 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի մարտին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

@zh-hk

2000年論文

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2000年論文

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2000年论文

@wuu

name

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

@ast

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

@en

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

@nl

type

label

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

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

@en

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

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prefLabel

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

@ast

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

@en

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

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Journal of Biological Chemistry

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

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A Koschak

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H Glossmann

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J Striessnig

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M J Sinnegger

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P Carrera

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R L Kraus

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S Stenirri

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P2860

Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25

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

Progressive ataxia due to a missense mutation in a calcium-channel gene

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

Genetic heterogeneity in Italian families with familial hemiplegic migraine

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

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

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migraine disorder