Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker
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Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotoniaA1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivationA C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivationFunctional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humansPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonVoltage-gated sodium channels and cancer: is excitability their primary role?On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseasesChannelopathies of skeletal muscle excitabilityChannel cytoplasmic loops alter voltage-dependent sodium channel activation in an isoform-specific mannerMexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channelTargeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.Improving cardiac conduction with a skeletal muscle sodium channel by gene and cell therapyA mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.Sodium channel biophysics, late sodium current and genetic arrhythmic syndromesCold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.Inherited disorders of voltage-gated sodium channels.Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis.Physiologic basis of potentials recorded in electromyography.Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotoniaRapid and slow voltage-dependent conformational changes in segment IVS6 of voltage-gated Na(+) channelsGenetic disorders of neuromuscular ion channels.Myasthenic syndrome caused by mutation of the SCN4A sodium channelSlow inactivation does not affect movement of the fast inactivation gate in voltage-gated Na+ channels.Molecular analysis of the putative inactivation particle in the inactivation gate of brain type IIA Na+ channels.Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis.Cardiac expression of skeletal muscle sodium channels increases longitudinal conduction velocity in the canine 1-week myocardial infarction.Domain IV voltage-sensor movement is both sufficient and rate limiting for fast inactivation in sodium channels.Sodium channelopathies of skeletal muscle result from gain or loss of function.Regenerative therapies in electrophysiology and pacing: introducing the next steps.The diagnosis and treatment of myotonic disorders.Antisense-mediated post-transcriptional silencing of SCN1B gene modulates sodium channel functional expression.Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia.Epicardial border zone overexpression of skeletal muscle sodium channel SkM1 normalizes activation, preserves conduction, and suppresses ventricular arrhythmia: an in silico, in vivo, in vitro study.Theoretical investigation of the neuronal Na+ channel SCN1A: abnormal gating and epilepsy.Lidocaine induces a slow inactivated state in rat skeletal muscle sodium channels.Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.Mutations, molecules, and myotoniaA human muscle Na+ channel mutation in the voltage sensor IV/S4 affects channel block by the pentapeptide KIFMK.
P2860
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P2860
Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh
1996年學術文章
@zh-hant
name
Inactivation defects caused by ...... e sodium channel III-IV linker
@ast
Inactivation defects caused by ...... e sodium channel III-IV linker
@en
type
label
Inactivation defects caused by ...... e sodium channel III-IV linker
@ast
Inactivation defects caused by ...... e sodium channel III-IV linker
@en
prefLabel
Inactivation defects caused by ...... e sodium channel III-IV linker
@ast
Inactivation defects caused by ...... e sodium channel III-IV linker
@en
P2093
P2860
P356
P1476
Inactivation defects caused by ...... e sodium channel III-IV linker
@en
P2093
L J Hayward
S C Cannon
P2860
P304
P356
10.1085/JGP.107.5.559
P577
1996-05-01T00:00:00Z