List of works - Ciria C. Hernandez

A carboxy-terminal inter-helix linker as the site of phosphatidylinositol 4,5-bisphosphate action on Kv7 (M-type) K+ channels.

scientific article published on September 2008

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

scientific article

A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors

scientific article published on 13 February 2018

Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.

scientific article published on January 2017

Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor β2 subunits

scientific article

Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population

scientific article published on 21 November 2016

De novo GABRG2 mutations associated with epileptic encephalopathies.

scientific article published on 17 November 2016

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population

scientific article

Determinants within the turret and pore-loop domains of KCNQ3 K+ channels governing functional activity.

scientific article

Determination of the melanocortin-4 receptor structure identifies Ca2+ as a cofactor for ligand binding

scientific article published on 01 April 2020

Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function

scientific journal article

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

scientific article published on 21 November 2017

GABRB3 Mutation, G32R, Associated with Childhood Absence Epilepsy Alters α1β3γ2L γ-Aminobutyric Acid Type A (GABAA) Receptor Expression and Channel Gating ⬇️

scientific article published on February 2, 2012

Homomeric and heteromeric assembly of KCNQ (Kv7) K+ channels assayed by total internal reflection fluorescence/fluorescence resonance energy transfer and patch clamp analysis

scientific article

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

scientific article published on 13 October 2012

Oxidative modification of M-type K(+) channels as a mechanism of cytoprotective neuronal silencing

scientific article

Reply

scientific article published on 24 June 2016

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.

scientific article published on 30 June 2012

The GPCR accessory protein MRAP2 regulates both biased signaling and constitutive activity of the ghrelin receptor GHSR1a

scientific article published on 07 January 2020

Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.

scientific article published on 4 May 2014

List of works by Ciria C. Hernandez

A carboxy-terminal inter-helix linker as the site of phosphatidylinositol 4,5-bisphosphate action on Kv7 (M-type) K+ channels.

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors

Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.

Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor β2 subunits

Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population

De novo GABRG2 mutations associated with epileptic encephalopathies.

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population

Determinants within the turret and pore-loop domains of KCNQ3 K+ channels governing functional activity.

Determination of the melanocortin-4 receptor structure identifies Ca2+ as a cofactor for ligand binding

Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

GABRB3 Mutation, G32R, Associated with Childhood Absence Epilepsy Alters α1β3γ2L γ-Aminobutyric Acid Type A (GABAA) Receptor Expression and Channel Gating ⬇️

Homomeric and heteromeric assembly of KCNQ (Kv7) K+ channels assayed by total internal reflection fluorescence/fluorescence resonance energy transfer and patch clamp analysis

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

Oxidative modification of M-type K(+) channels as a mechanism of cytoprotective neuronal silencing

Reply

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.

The GPCR accessory protein MRAP2 regulates both biased signaling and constitutive activity of the ghrelin receptor GHSR1a

Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.