A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly.
about
Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversityA polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexesThe KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interactionCellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndromeIntracellular domains interactions and gated motions of I(KS) potassium channel subunitsA carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.Structural insight into KCNQ (Kv7) channel assembly and channelopathyKCNQ potassium channels in sensory system and neural circuitsThe KCNQ1 channel - remarkable flexibility in gating allows for functional versatilityMolecular pathogenesis of long QT syndrome type 1KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currentsIon channels and epilepsySubcellular localization of the delayed rectifier K(+) channels KCNQ1 and ERG1 in the rat heartDistal end of carboxyl terminus is not essential for the assembly of rat Eag1 potassium channelsMice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness.Regulation of KCNQ/Kv7 family voltage-gated K+ channels by lipids.Direct observation of individual KCNQ1 potassium channels reveals their distinctive diffusive behavior.Alternative splicing of KCNQ2 potassium channel transcripts contributes to the functional diversity of M-currents.Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect.Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T).Mechanisms of disease pathogenesis in long QT syndrome type 5Several polymorphisms of KCNQ1 gene are associated with plasma lipid levels in general Chinese populations.Coiled coils direct assembly of a cold-activated TRP channel.The KCNQ1 potassium channel: from gene to physiological function.Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.Arrhythmogenic cardiomyopathy in a patient with a rare loss-of-function KCNQ1 mutation.Identification of a key residue in Kv7.1 potassium channel essential for sensing external potassium ions.Cell excitability necessary for male mating behavior in Caenorhabditis elegans is coordinated by interactions between big current and ether-a-go-go family K(+) channels.Kv7.1 (KCNQ1) properties and channelopathies.The C-terminus of Kv7 channels: a multifunctional module.Nervous system KV7 disorders: breakdown of a subthreshold brake.An overview of trafficking and assembly of neurotransmitter receptors and ion channels (Review).Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.The KCNE Tango - How KCNE1 Interacts with Kv7.1.Cardiac Delayed Rectifier Potassium Channels in Health and Disease.Molecular Pathophysiology of Congenital Long QT Syndrome.Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.
P2860
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P2860
A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
A recessive C-terminal Jervell ...... nnel impairs subunit assembly.
@en
type
label
A recessive C-terminal Jervell ...... nnel impairs subunit assembly.
@en
prefLabel
A recessive C-terminal Jervell ...... nnel impairs subunit assembly.
@en
P2093
P2860
P356
P1433
P1476
A recessive C-terminal Jervell ...... nnel impairs subunit assembly.
@en
P2093
P2860
P304
P356
10.1093/EMBOJ/19.3.332
P407
P577
2000-02-01T00:00:00Z