Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia (Q28189818)

Russell G Snell

16

0 references

Mark I Rees

Mark I Rees

1

0 references

Henry Waldvogel

Henry J Waldvogel

11

0 references

Robert J. Harvey

Robert J Harvey

15

0 references

Trevor G Smart

13

Trevor G Smart

0 references

author name string

Kirsten Harvey

2

0 references

Hamish Ward

3

0 references

Julia H White

4

0 references

Luc Evans

5

0 references

Cynthia C-H Hsu

7

0 references

Sharon L Coleman

8

0 references

Jan Miller

9

0 references

Kristin Baer

10

0 references

Francis Gibbon

12

0 references

Michael J Owen

Journal of Biological Chemistry

14

0 references

language of work or name

English

0 references

publication date

4 July 2003

0 references

published in

0 references

volume

278

0 references

issue

27

0 references

page(s)

24688-96

0 references

cites work

The strychnine-binding subunit of the glycine receptor shows homology with nicotinic acetylcholine receptors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

The inhibitory glycine receptor: a ligand-gated chloride channel of the central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Conserved quaternary structure of ligand-gated ion channels: the postsynaptic glycine receptor is a pentamer

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Glycine receptors: heterogeneous and widespread in the mammalian brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Assembly of the inhibitory glycine receptor: identification of amino acid sequence motifs governing subunit stoichiometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

The 93 kDa protein gephyrin and tubulin associated with the inhibitory glycine receptor are phosphorylated by an endogenous protein kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Identification of a gephyrin binding motif on the glycine receptor beta subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Hydrophobic interactions mediate binding of the glycine receptor beta-subunit to gephyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Postsynaptic clustering of gamma-aminobutyric acid type A receptors by the gamma3 subunit in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Colocalization of multiple GABA(A) receptor subtypes with gephyrin at postsynaptic sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Receptors, gephyrin and gephyrin-associated proteins: novel insights into the assembly of inhibitory postsynaptic membrane specializations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Purification and characterization of the glycine receptor of pig spinal cord.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Fast and reversible trapping of surface glycine receptors by gephyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Interaction of RAFT1 with gephyrin required for rapamycin-sensitive signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Interactions of drebrin and gephyrin with profilin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Diversity and phylogeny of gephyrin: tissue-specific splice variants, gene structure, and sequence similarities to molybdenum cofactor-synthesizing and cytoskeleton-associated proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Variants of the receptor/channel clustering molecule gephyrin in brain: distinct distribution patterns, developmental profiles, and proteolytic cleavage by calpain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Assembly of signaling machinery at the postsynaptic membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Startle disease or hyperekplexia: further delineation of the syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Hyperekplexia: a syndrome of pathological startle responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Autoimmunity to gephyrin in Stiff-Man syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Expression and mRNA splicing of glycine receptor subunits and gephyrin during neuronal differentiation of P19 cells in vitro, studied by RT-PCR and immunocytochemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Synaptic targeting of ionotropic neurotransmitter receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Organization and sequence of the human gene encoding cytokeratin 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

X-ray crystal structure of the trimeric N-terminal domain of gephyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M301070200

21 January 2018

Identifiers

DOI

10.1074/JBC.M301070200

1 reference

Consolidated OpenCitations Corpus – April 2017

426594

426594

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference