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Lista de obras de Robert J Harvey

A Selective Role for alpha3 Subunit Glycine Receptors in Inflammatory Pain

artículo científico publicado en 2009

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

artículo científico publicado en 2009

A canine BCAN microdeletion associated with episodic falling syndrome

artículo científico publicado en 2011

A critical role for glycine transporters in hyperexcitability disorders

artículo científico publicado en 2008

A new mechanism for cannabidiol in regulating the one-carbon cycle and methionine levels in Dictyostelium and in mammalian epilepsy models

scientific article published on 03 January 2020

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

artículo científico publicado en 2012

A novel invertebrate GABAA receptor-like polypeptide. Sequence and pattern of gene expression.

artículo científico publicado en 1993

A novel movement disorder in related male Labrador Retrievers characterized by extreme generalized muscular stiffness.

artículo científico publicado en 2011

A proposed structural basis for picrotoxinin and picrotin binding in the glycine receptor pore

article

A revised nomenclature for the human and rodent alpha-tubulin gene family

artículo científico publicado en 2007

ACR-3, a Caenorhabditis elegans nicotinic acetylcholine receptor subunit. Molecular cloning and functional expression.

artículo científico publicado en 1997

Acetazolamide-responsive paroxysmal dyskinesia in a 12-week-old female golden retriever dog.

artículo científico publicado en 2015

Achieving optimal expression for single channel recording: a plasmid ratio approach to the expression of alpha 1 glycine receptors in HEK293 cells

artículo científico publicado en 2002

Alpha2-Containing Glycine Receptors Promote Neonatal Spontaneous Activity of Striatal Medium Spiny Neurons and Support Maturation of Glutamatergic Inputs

artículo científico publicado en 2018

Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress

artículo científico publicado en 2006

Alternative splicing of a 51-nucleotide exon that encodes a putative protein kinase C phosphorylation site generates two forms of the chicken gamma-aminobutyric acidA receptor beta 2 subunit.

artículo científico publicado en 1994

An N-terminal histidine regulates Zn(2+) inhibition on the murine GABA(A) receptor beta3 subunit

artículo científico publicado en 2002

Analysis of GABAA receptor subunit genes in multiplex pedigrees with manic depression

article

Antibodies to aquaporin 4, myelin-oligodendrocyte glycoprotein, and the glycine receptor α1 subunit in patients with isolated optic neuritis

artículo científico publicado en 2015

Audiogenic reflex seizures in cats

artículo científico publicado en 2015

Audiogenic reflex seizures in cats

artículo científico publicado en 2013

Cerebral Cortical Circuitry Formation Requires Functional Glycine Receptors

artículo científico publicado en 2016

Channel gating in the absence of agonist by a homooligomeric molluscan GABA receptor expressed inXenopus oocytes from a cloned cDNA ⬇️

artículo científico publicado el 1 de diciembre de 1995

Channels formed by M2 peptides of a putative glutamate receptor subunit of locust.

artículo científico publicado en 1993

Chicken GABA(A) receptor beta4 subunits form robust homomeric GABA-gated channels in Xenopus oocytes.

artículo científico publicado en 1998

Clinical and Immunologic Investigations in Patients With Stiff-Person Spectrum Disorder

artículo científico publicado en 2016

Cloning of a cDNA that encodes an invertebrate glutamate receptor subunit ⬇️

artículo científico publicado el 4 de noviembre de 1991

Cloning of genomic and cDNA sequences encoding an invertebrate γ-aminobutyric acidAreceptor subunit

scientific article published on 01 June 1990

Clueless/CLUH regulates mitochondrial fission by promoting recruitment of Drp1 to mitochondria

artículo científico publicado en 2022

Complex role of collybistin and gephyrin in GABAA receptor clustering

artículo científico publicado en 2010

Conservation of gamma-aminobutyric acid type A receptor alpha 6 subunit gene expression in cerebellar granule cells.

artículo científico publicado en 1996

Control of Inhibition by the Direct Action of Cannabinoids on GABAA Receptors

artículo científico publicado en 2014

Control of ethanol sensitivity of the glycine receptor α3 subunit by transmembrane 2, the intracellular splice cassette and C-terminal domains

artículo científico publicado en 2015

Corrigendum to “A revised nomenclature for the human and rodent α-tubulin gene family” [Genomics 90 (2007) 285–289]

artículo científico publicado en 2009

Defective escape behavior in DEAH-box RNA helicase mutants improved by restoring glycine receptor expression.

artículo científico publicado en 2013

Defective glycinergic synaptic transmission in zebrafish motility mutants

artículo científico publicado en 2009

Developmental up-regulation and agonist-dependent down-regulation of GABAA receptor subunit mRNAs in chick cortical neurons

artículo científico publicado en 1994

Differential agonist sensitivity of glycine receptor alpha2 subunit splice variants

artículo científico publicado en 2004

Differential patterns of expression of two novel invertebrate (Lymnaea stagnalis) ionotropic glutamate receptor genes

article

Differential regulation of the postsynaptic clustering of γ-aminobutyric acid type A (GABAA) receptors by collybistin isoforms

artículo científico publicado en 2011

Dihydropyridine inhibition of the glycine receptor: subunit selectivity and a molecular determinant of inhibition

artículo científico publicado en 2008

Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties

artículo científico publicado en 2018

Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease

artículo científico

Distinct Mechanisms of Pathogenic DJ-1 Mutations in Mitochondrial Quality Control.

artículo científico publicado en 2018

Distinct phenotypes in zebrafish models of human startle disease

artículo científico publicado en 2013

Distinct synaptic localization patterns of brefeldin A-resistant guanine nucleotide exchange factors BRAG2 and BRAG3 in the mouse retina

artículo científico publicado en 2013

Diversity of glycine receptors in the mouse retina: localization of the alpha2 subunit

artículo científico publicado en 2004

Diversity of glycine receptors in the mouse retina: localization of the alpha3 subunit

artículo científico publicado en 2003

Diversity of glycine receptors in the mouse retina: localization of the alpha4 subunit

artículo científico publicado en 2007

Duplicated gephyrin genes showing distinct tissue distribution and alternative splicing patterns mediate molybdenum cofactor biosynthesis, glycine receptor clustering, and escape behavior in zebrafish

artículo científico publicado en 2010

Editorial: Molecular, Cellular and Model Organism Approaches for Understanding the Basis of Neurological Disease

artículo científico publicado en 2017

Epicatechin gallate, a naturally occurring polyphenol, alters the course of infection with β-lactam-resistant Staphylococcus aureus in the zebrafish embryo

artículo científico publicado en 2015

Ethanol consumption and sedation are altered in mice lacking the glycine receptor α2 subunit

artículo científico publicado en 2020

Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review

artículo científico publicado en 2004

Frontiers in molecular neuroscience - résumé and perspective

artículo científico publicado en 2011

Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease.

artículo científico publicado en 2018

GABA-, Glycine-, and Glutamate-Gated Channels and Their Possible Involvement in Neurological and Psychiatric Illness

GLRB is the third major gene of effect in hyperekplexia.

artículo científico publicado en 2012

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

artículo científico publicado en 2014

Genes for the GABAA receptor subunit types and their expression

artículo científico publicado el 1 de enero de 1992

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism

scientific article published on 15 September 2015

Gephyrin: where do we stand, where do we go?

artículo científico publicado en 2008

GlyR alpha3: an essential target for spinal PGE2-mediated inflammatory pain sensitization

artículo científico publicado en 2004

Glycine Receptors

article from 2001

Glycine Receptors in Cultured Chick Sympathetic Neurons are Excitatory and Trigger Neurotransmitter Release

artículo científico publicado en 1997

Glycine and glycine receptor signalling in non-neuronal cells.

artículo científico publicado en 2009

Glycine as a Neurotransmitter

scholarly article published 19 April 2001

Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype

artículo científico publicado en 2013

Glycine receptor α2 subunit activation promotes cortical interneuron migration

artículo científico publicado en 2013

Glycine receptors containing the alpha4 subunit in the embryonic sympathetic nervous system, spinal cord and male genital ridge

scientific journal article

Glycine receptors control the generation of projection neurons in the developing cerebral cortex

artículo científico publicado en 2014

Glycine transporters as novel therapeutic targets in schizophrenia, alcohol dependence and pain

artículo científico publicado en 2013

Glycinergic transmission in the Mammalian retina

artículo científico publicado en 2009

Glycinergic transmission: physiological, developmental and pathological implications ⬇️

artículo científico publicado el 19 de agosto de 2010

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

artículo científico publicado en 2004

Highly effective SNP-based association mapping and management of recessive defects in livestock

artículo científico publicado en 2008

Hyperekplexia: Stiffness, startle and syncope

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

article

Identification of an inhibitory Zn2+ binding site on the human glycine receptor alpha1 subunit.

artículo científico publicado en 1999

Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom.

artículo científico publicado en 2011

In situ hybridization and reverse transcription--polymerase chain reaction studies on the expression of the GABA(C) receptor rho1- and rho2-subunit genes in avian and rat brain.

artículo científico publicado en 1997

In situ hybridization localization of the GABAA receptor beta 2S- and beta 2L-subunit transcripts reveals cell-specific splicing of alternate cassette exons.

artículo científico publicado en 1997

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis

artículo científico publicado en 2017

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

artículo científico publicado en 2003

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

artículo científico publicado en 2007

Levetiracetam in the management of feline audiogenic reflex seizures: a randomised, controlled, open-label study

Localization of rat glycine receptor ?1 and ?2 subunit transcripts in the developing auditory brainstem

article

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

artículo científico publicado en 2015

Molecular Characterisation and Functional Expression of Molluscan Ion-Channel Receptors That Can Be Activated By Either γ-Aminobutyric Acid or L-Glutamate

article published in 1993

Molecular basis of the γ-aminobutyric acid A receptor α3 subunit interaction with the clustering protein gephyrin

scientific journal article

Molecular cloning reveals the existence of a fourth gamma subunit of the vertebrate brain GABAA receptor.

artículo científico publicado en 1993

Molecular determinants of glycine receptor alphabeta subunit sensitivities to Zn2+-mediated inhibition

artículo científico publicado en 2005

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

artículo científico

Molluscan ligand-gated ion-channel receptors.

artículo científico publicado en 1993

Multifunctional basic motif in the glycine receptor intracellular domain induces subunit-specific sorting

artículo científico publicado en 2009

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

artículo científico publicado en 2015

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

artículo científico publicado en 2007

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

artículo científico publicado en 2012

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

artículo científico publicado en 2006

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

artículo científico publicado en 2010

Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)

artículo científico publicado en 2016

Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin

artículo científico publicado en 2009

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

artículo científico publicado en 2012

Opioid receptors from a lower vertebrate (Catostomus commersoni): sequence, pharmacology, coupling to a G-protein-gated inward-rectifying potassium channel (GIRK1), and evolution.

artículo científico publicado en 1997

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

artículo científico publicado en 2010

Phenotypic characterisation of canine epileptoid cramping syndrome in the Border terrier

artículo científico publicado en 2013

Plasticity of synaptic inhibition in mouse spinal cord lamina II neurons during early postnatal development and after inactivation of the glycine receptor alpha3 subunit gene.

artículo científico publicado en 2009

RNA editing produces glycine receptor alpha3(P185L), resulting in high agonist potency

artículo científico publicado en 2005

Random-primed cDNA synthesis facilitates the isolation of multiple 5'-cDNA ends by RACE.

artículo científico publicado en 1991

Reliable and accurate sequencing of lambda, cosmid and P1 DNAs using modified dye terminator reaction parameters

Scottie cramp and canine epileptoid cramping syndrome in Border terriers ⬇️

artículo científico publicado el 1 de febrero de 2012

Selective localization of collybistin at a subset of inhibitory synapses in brain circuits

artículo científico publicado en 2012

Sequence of a Drosophila ligand-gated ion-channel polypeptide with an unusual amino-terminal extracellular domain.

artículo científico publicado en 1994

Sequence of a functional invertebrate GABAA receptor subunit which can form a chimeric receptor with a vertebrate alpha subunit ⬇️

artículo científico publicado el 1 de noviembre de 1991

Serotonin receptor 1A-modulated phosphorylation of glycine receptor α3 controls breathing in mice

artículo científico publicado en 2010

Spinal prostaglandin E receptors of the EP2 subtype and the glycine receptor α3 subunit, which mediate central inflammatory hyperalgesia, do not contribute to pain after peripheral nerve injury or formalin injection

article

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

artículo científico publicado en 2011

Structure and functions of inhibitory and excitatory glycine receptors.

artículo científico publicado en 1999

Structure and pharmacological properties of a molluscan glutamate-gated cation channel and its likely role in feeding behavior.

artículo científico publicado en 1996

Structure, assembly and targeting of glycine receptors

Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function

artículo científico publicado en 2017

Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses

artículo científico publicado en 2018

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

artículo científico publicado en 2010

Subunit-specific modulation of glycine receptors by cannabinoids and N-arachidonyl-glycine.

artículo científico publicado en 2008

SynArfGEF is a guanine nucleotide exchange factor for Arf6 and localizes preferentially at post-synaptic specializations of inhibitory synapses

scientific journal article

Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition

artículo científico publicado en 2005

TSPO interacts with VDAC1 and triggers a ROS-mediated inhibition of mitochondrial quality control

scientific journal article

The Clinical and Serological Effect of a Gluten-Free Diet in Border Terriers with Epileptoid Cramping Syndrome.

artículo científico publicado en 2015

The cell adhesion molecule neurofascin stabilizes axo-axonic GABAergic terminals at the axon initial segment

artículo científico publicado en 2011

The genetics of hyperekplexia: more than startle!

artículo científico publicado en 2008

The glycinergic system in human startle disease: a genetic screening approach

artículo científico publicado en 2010

The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.

artículo científico publicado en 2007

Tonically Active α2 Subunit-Containing Glycine Receptors Regulate the Excitability of Striatal Medium Spiny Neurons

artículo científico publicado en 2017

Unusual effects of benzodiazepines and cyclodiene insecticides on an expressed invertebrate GABAA receptor

artículo científico publicado en 1992

Zinc-mediated inhibition of GABA(A) receptors: discrete binding sites underlie subtype specificity

artículo científico publicado en 2003

[Serotonin receptor 1A-modulated dephosphorylation of glycine receptor α3: a new molecular mechanism of breathing control for compensation of opioid-induced respiratory depression without loss of analgesia].

artículo científico publicado en 2011

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