Literature DB >> 8571969

A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.

N Milani, L Dalprá, A del Prete, R Zanini, L Larizza.   

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Year:  1996        PMID： 8571969      PMCID： PMC1914546     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  12 in total

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

Authors:  G Grenningloh; A Rienitz; B Schmitt; C Methfessel; M Zensen; K Beyreuther; E D Gundelfinger; H Betz
Journal:  Nature       Date:  1987 Jul 16-22       Impact factor: 49.962

2.  An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.

Authors:  D F Schorderet; G Pescia; A Bernasconi; F Regli
Journal:  Hum Mol Genet       Date:  1994-07       Impact factor: 6.150

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

Authors:  R Shiang; S G Ryan; Y Z Zhu; A F Hahn; P O'Connell; J J Wasmuth
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

4.  Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

Authors:  S G Ryan; M J Dixon; M A Nigro; K A Kelts; O N Markand; J C Terry; R Shiang; J J Wasmuth; P O'Connell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

5.  A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.

Authors:  S G Ryan; M S Buckwalter; J W Lynch; C A Handford; L Segura; R Shiang; J J Wasmuth; S A Camper; P Schofield; P O'Connell
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

6.  Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

Authors:  S F Kingsmore; B Giros; D Suh; M Bieniarz; M G Caron; M F Seldin
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

7.  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.

Authors:  M I Rees; M Andrew; S Jawad; M J Owen
Journal:  Hum Mol Genet       Date:  1994-12       Impact factor: 6.150

8.  Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.

Authors:  G Grenningloh; V Schmieden; P R Schofield; P H Seeburg; T Siddique; T K Mohandas; C M Becker; H Betz
Journal:  EMBO J       Date:  1990-03       Impact factor: 11.598

9.  Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers.

Authors:  J Bormann; N Rundström; H Betz; D Langosch
Journal:  EMBO J       Date:  1993-10       Impact factor: 11.598

10.  Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.

Authors:  D Langosch; B Laube; N Rundström; V Schmieden; J Bormann; H Betz
Journal:  EMBO J       Date:  1994-09-15       Impact factor: 11.598
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  14 in total

1.  A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

Authors:  W Brune; R G Weber; B Saul; M von Knebel Doeberitz; C Grond-Ginsbach; K Kellerman; H M Meinck; C M Becker
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

2.  Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel.

Authors:  J W Lynch; S Rajendra; K D Pierce; C A Handford; P H Barry; P R Schofield
Journal:  EMBO J       Date:  1997-01-02       Impact factor: 11.598

3.  A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

Authors:  Ivan Milenkovic; Alexander Zimprich; Martin Gencik; Kirsten Platho-Elwischger; Stefan Seidel
Journal:  J Neural Transm (Vienna)       Date:  2018-09-04       Impact factor: 3.575

4.  Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

Authors:  Sandra L Gilbert; Fatih Ozdag; Umit H Ulas; William B Dobyns; Bruce T Lahn
Journal:  Mol Diagn       Date:  2004

5.  Corticospinal transmission to leg motoneurones in human subjects with deficient glycinergic inhibition.

Authors:  J B Nielsen; M A J Tijssen; N L Hansen; C Crone; N T Petersen; P Brown; J G Van Dijk; J C Rothwell
Journal:  J Physiol       Date:  2002-10-15       Impact factor: 5.182

Review 6.  Hyperekplexia in neonates.

Authors:  V Praveen; S K Patole; J S Whitehall
Journal:  Postgrad Med J       Date:  2001-09       Impact factor: 2.401

7.  Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.

Authors:  B Saul; T Kuner; D Sobetzko; W Brune; F Hanefeld; H M Meinck; C M Becker
Journal:  J Neurosci       Date:  1999-02-01       Impact factor: 6.167

8.  Glycine receptor knock-in mice and hyperekplexia-like phenotypes: comparisons with the null mutant.

Authors:  Geoffrey S Findlay; Rachel Phelan; Michael T Roberts; Gregg E Homanics; Susan E Bergeson; Gregory F Lopreato; S John Mihic; Yuri A Blednov; R Adron Harris
Journal:  J Neurosci       Date:  2003-09-03       Impact factor: 6.167

9.  Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

Authors:  F V Elmslie; S M Hutchings; V Spencer; A Curtis; T Covanis; R M Gardiner; M Rees
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

10.  Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.

Authors:  Pablo Lapunzina; Juan M Sánchez; Marta Cabrera; Ana Moreno; Alicia Delicado; Maria L de Torres; Angeles M Mori; José Quero; Isidora Lopez Pajares
Journal:  Mol Diagn       Date:  2003
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