about
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor functionDeterminants within the turret and pore-loop domains of KCNQ3 K+ channels governing functional activity.Homomeric and heteromeric assembly of KCNQ (Kv7) K+ channels assayed by total internal reflection fluorescence/fluorescence resonance energy transfer and patch clamp analysis.Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor β2 subunits.A de novo missense mutation of GABRB2 causes early myoclonic encephalopathyOxidative modification of M-type K(+) channels as a mechanism of cytoprotective neuronal silencing.Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.A carboxy-terminal inter-helix linker as the site of phosphatidylinositol 4,5-bisphosphate action on Kv7 (M-type) K+ channels.Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutationAltered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.De novo GABRG2 mutations associated with epileptic encephalopathies.A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors.ReplyThe GPCR accessory protein MRAP2 regulates both biased signaling and constitutive activity of the ghrelin receptor GHSR1aDetermination of the melanocortin-4 receptor structure identifies Ca2+ as a cofactor for ligand binding
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Ciria C Hernandez
@ast
Ciria C Hernandez
@en
Ciria C Hernandez
@es
Ciria C Hernandez
@nl
type
label
Ciria C Hernandez
@ast
Ciria C Hernandez
@en
Ciria C Hernandez
@es
Ciria C Hernandez
@nl
prefLabel
Ciria C Hernandez
@ast
Ciria C Hernandez
@en
Ciria C Hernandez
@es
Ciria C Hernandez
@nl
P108
P106
P108
P31
P496
0000-0001-9715-1734