Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.
about
Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stabilityGlycine receptor mouse mutants: model systems for human hyperekplexiaZebrafish bandoneon mutants display behavioral defects due to a mutation in the glycine receptor beta-subunit.Defective glycinergic synaptic transmission in zebrafish motility mutants.Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.Distinct phenotypes in zebrafish models of human startle disease.Chloride ions in the pore of glycine and GABA channels shape the time course and voltage dependence of agonist currents.Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors.Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease.Impaired Glycine Receptor Trafficking in Neurological Diseases
P2860
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P2860
Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.
description
2002 nî lūn-bûn
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2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Functional characterization of ...... startle disease hyperekplexia.
@en
Functional characterization of ...... startle disease hyperekplexia.
@nl
type
label
Functional characterization of ...... startle disease hyperekplexia.
@en
Functional characterization of ...... startle disease hyperekplexia.
@nl
prefLabel
Functional characterization of ...... startle disease hyperekplexia.
@en
Functional characterization of ...... startle disease hyperekplexia.
@nl
P2093
P2860
P1476
Functional characterization of ...... startle disease hyperekplexia.
@en
P2093
Colin Herd
Marina A Tijssen
Rune R Frants
P2860
P304
P356
10.1046/J.1460-9568.2002.02054.X
P407
P577
2002-07-01T00:00:00Z