Published in Trends Genet on August 15, 2008
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Distinct phenotypes in zebrafish models of human startle disease. Neurobiol Dis (2013) 0.79
The alanine-serine-cysteine-1 (Asc-1) transporter controls glycine levels in the brain and is required for glycinergic inhibitory transmission. EMBO Rep (2015) 0.78
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Glycine receptors support excitatory neurotransmitter release in developing mouse visual cortex. J Physiol (2012) 0.78
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Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation. J Physiol (2016) 0.77
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Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia. J Biol Chem (2016) 0.76
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Structure and Pharmacologic Modulation of Inhibitory Glycine Receptors. Mol Pharmacol (2016) 0.76
Mutational Analysis at Intersubunit Interfaces of an Anionic Glutamate Receptor Reveals a Key Interaction Important for Channel Gating by Ivermectin. Front Mol Neurosci (2017) 0.75
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. Am J Hum Genet (2016) 0.75
Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias. Front Vet Sci (2015) 0.75
Functional modulation of glycine receptors by the alkaloid gelsemine. Br J Pharmacol (2016) 0.75
Incompatibility between a pair of residues from the pre-M1 linker and Cys-loop blocks surface expression of the glycine receptor. J Biol Chem (2012) 0.75
The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons. Sci Rep (2016) 0.75
Defects of the Glycinergic Synapse in Zebrafish. Front Mol Neurosci (2016) 0.75
Trapping of ivermectin by a pentameric ligand-gated ion channel upon open-to-closed isomerization. Sci Rep (2017) 0.75
A confusing coincidence: neonatal hypoglycemic seizures and hyperekplexia. Case Rep Med (2014) 0.75
Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia. Front Mol Neurosci (2015) 0.75
Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function. Front Mol Neurosci (2017) 0.75
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis (2006) 5.96
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GlyR alpha3: an essential target for spinal PGE2-mediated inflammatory pain sensitization. Science (2004) 3.38
Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet (2008) 2.68
Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin. Neuron (2009) 2.44
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A structural perspective on protein-protein interactions. Curr Opin Struct Biol (2004) 1.98
Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress. J Neurochem (2006) 1.91
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. J Neurosci (2004) 1.75
Subnanometer-resolution electron cryomicroscopy-based domain models for the cytoplasmic region of skeletal muscle RyR channel. Proc Natl Acad Sci U S A (2008) 1.68
A heterozygous effect for PINK1 mutations in Parkinson's disease? Ann Neurol (2006) 1.61
Mechanism of lid closure in the eukaryotic chaperonin TRiC/CCT. Nat Struct Mol Biol (2008) 1.51
A new tRNA intermediate revealed on the ribosome during EF4-mediated back-translocation. Nat Struct Mol Biol (2008) 1.50
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nat Genet (2006) 1.49
Impaired GABAergic transmission and altered hippocampal synaptic plasticity in collybistin-deficient mice. EMBO J (2007) 1.49
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Mechanism of eIF6-mediated inhibition of ribosomal subunit joining. J Biol Chem (2010) 1.44
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Structure of an apoptosome-procaspase-9 CARD complex. Structure (2010) 1.42
ATP-triggered conformational changes delineate substrate-binding and -folding mechanics of the GroEL chaperonin. Cell (2012) 1.41
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain (2013) 1.40
Complex role of collybistin and gephyrin in GABAA receptor clustering. J Biol Chem (2010) 1.40
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet (2010) 1.35
Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm (2008) 1.33
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. J Neurosci (2010) 1.33
Insight into the mode of action of the LRRK2 Y1699C pathogenic mutant. J Neurochem (2011) 1.33
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Hum Mutat (2009) 1.32
Scoring functions for cryoEM density fitting. J Struct Biol (2011) 1.28
The residence time of GABA(A)Rs at inhibitory synapses is determined by direct binding of the receptor α1 subunit to gephyrin. J Neurosci (2011) 1.25
An ovine transgenic Huntington's disease model. Hum Mol Genet (2010) 1.24
Crystal structure of carbapenem synthase (CarC). J Biol Chem (2003) 1.24
Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways. Hum Mol Genet (2009) 1.22
Structure of the Drosophila apoptosome at 6.9 å resolution. Structure (2011) 1.22
PREDICT modeling and in-silico screening for G-protein coupled receptors. Proteins (2004) 1.18
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. J Biol Chem (2003) 1.17
RNA channelling by the eukaryotic exosome. EMBO Rep (2010) 1.16
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. Brain (2013) 1.06
The importance of Wnt signalling for neurodegeneration in Parkinson's disease. Biochem Soc Trans (2012) 1.04
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Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses. J Cell Sci (2011) 1.03
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. J Cardiovasc Electrophysiol (2009) 1.02
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Diversity of glycine receptors in the mouse retina: localization of the alpha3 subunit. J Comp Neurol (2003) 1.01
Immunohistochemical staining of post-mortem adult human brain sections. Nat Protoc (2006) 1.01
LRRK2 signaling pathways: the key to unlocking neurodegeneration? Trends Cell Biol (2011) 1.01
Molecular basis of the γ-aminobutyric acid A receptor α3 subunit interaction with the clustering protein gephyrin. J Biol Chem (2011) 1.00
The structure of herpesvirus fusion glycoprotein B-bilayer complex reveals the protein-membrane and lateral protein-protein interaction. Structure (2013) 1.00
Structural analysis of coxsackievirus A7 reveals conformational changes associated with uncoating. J Virol (2012) 0.98
A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation. J Biol Chem (2013) 0.97
Exploring the spatial and temporal organization of a cell's proteome. J Struct Biol (2010) 0.97
Multifunctional basic motif in the glycine receptor intracellular domain induces subunit-specific sorting. J Biol Chem (2009) 0.96
Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction? Heart Rhythm (2010) 0.96
Mapping a molecular link between allosteric inhibition and activation of the glycine receptor. Nat Struct Mol Biol (2008) 0.96
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol (2009) 0.95
The cell adhesion molecule neurofascin stabilizes axo-axonic GABAergic terminals at the axon initial segment. J Biol Chem (2011) 0.95
Changes in Apaf-1 conformation that drive apoptosome assembly. Biochemistry (2013) 0.95
GLRB is the third major gene of effect in hyperekplexia. Hum Mol Genet (2012) 0.94
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. J Biol Chem (2013) 0.93
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. J Biol Chem (2012) 0.93
Crystallographic conformers of actin in a biologically active bundle of filaments. J Mol Biol (2007) 0.93
Finding rigid bodies in protein structures: Application to flexible fitting into cryoEM maps. J Struct Biol (2011) 0.92
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. Neurobiol Dis (2012) 0.92
PICK1 interacts with alpha7 neuronal nicotinic acetylcholine receptors and controls their clustering. Mol Cell Neurosci (2007) 0.92
Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition. Neurobiol Dis (2005) 0.92
Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm (2007) 0.91
Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. Neurobiol Dis (2011) 0.91
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Differential regulation of the postsynaptic clustering of γ-aminobutyric acid type A (GABAA) receptors by collybistin isoforms. J Biol Chem (2011) 0.90
LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6. Hum Mol Genet (2012) 0.89
An N-terminal histidine regulates Zn(2+) inhibition on the murine GABA(A) receptor beta3 subunit. Br J Pharmacol (2002) 0.89
QT interval prolongation associated with sibutramine treatment. Br J Clin Pharmacol (2006) 0.88
Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone. Exp Neurol (2006) 0.87
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. J Biol Chem (2012) 0.87
Implications for families of advances in understanding the genetic basis of epilepsy. Seizure (2010) 0.85
Structure of a translocation signal domain mediating conjugative transfer by type IV secretion systems. Mol Microbiol (2013) 0.85
A critical role for glycine transporters in hyperexcitability disorders. Front Mol Neurosci (2008) 0.84
A fast mathematical programming procedure for simultaneous fitting of assembly components into cryoEM density maps. Bioinformatics (2010) 0.84
Misdiagnosis of long QT syndrome as epilepsy at first presentation. Ann Emerg Med (2009) 0.84
LRRK2: an éminence grise of Wnt-mediated neurogenesis? Front Cell Neurosci (2013) 0.83
Conformational States of macromolecular assemblies explored by integrative structure calculation. Structure (2013) 0.83
The regulation and deregulation of Wnt signaling by PARK genes in health and disease. J Mol Cell Biol (2013) 0.82
TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease. Brain Res Mol Brain Res (2004) 0.82
RIBFIND: a web server for identifying rigid bodies in protein structures and to aid flexible fitting into cryo EM maps. Bioinformatics (2012) 0.82
Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical study. J Comp Neurol (2007) 0.82
Dynamic changes in myelin aberrations and oligodendrocyte generation in chronic amyloidosis in mice and men. Glia (2012) 0.82
Fine architecture and mutation mapping of human brain inhibitory system ligand gated ion channels by high-throughput homology modeling. Adv Protein Chem Struct Biol (2010) 0.80
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Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease. Biol Chem (2012) 0.79