Literature DB >> 25170319

E(R)-GADD! Exploring Mutations in Generalized Epilepsy.

Adam L Hartman.   

Abstract

Entities:  

Year:  2014        PMID： 25170319      PMCID： PMC4120391          DOI： 10.5698/1535-7597-14.4.203

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


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  10 in total

1.  How does ubiquitin regulate synapses? Let me count the ways.

Authors:  Richard J Miller
Journal:  J Physiol       Date:  2014-02-15       Impact factor: 5.182

2.  Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Authors:  Louise A Harkin; David N Bowser; Leanne M Dibbens; Rita Singh; Fiona Phillips; Robyn H Wallace; Michaella C Richards; David A Williams; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer; Steven Petrou
Journal:  Am J Hum Genet       Date:  2001-12-17       Impact factor: 11.025

3.  Endoplasmic reticulum stress occurs downstream of GluN2B subunit of N-methyl-d-aspartate receptor in mature hippocampal cultures treated with amyloid-β oligomers.

Authors:  Rui O Costa; Pascale N Lacor; Ildete L Ferreira; Rosa Resende; Yves P Auberson; William L Klein; Catarina R Oliveira; Ana C Rego; Cláudia M F Pereira
Journal:  Aging Cell       Date:  2012-07-16       Impact factor: 9.304

4.  Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.

Authors:  Atsushi Ishii; Takeshi Kanaumi; Miwa Sohda; Yoshio Misumi; Bo Zhang; Naoto Kakinuma; Yoshiko Haga; Kazuyoshi Watanabe; Sen Takeda; Motohiro Okada; Shinya Ueno; Sunao Kaneko; Sachio Takashima; Shinichi Hirose
Journal:  Epilepsy Res       Date:  2014-01-03       Impact factor: 3.045

Review 5.  Mutations in GABAA receptor subunits associated with genetic epilepsies.

Authors:  Robert L Macdonald; Jing-Qiong Kang; Martin J Gallagher
Journal:  J Physiol       Date:  2010-03-22       Impact factor: 5.182

6.  Functional and molecular distinction between recombinant rat GABAA receptor subtypes by Zn2+.

Authors:  A Draguhn; T A Verdorn; M Ewert; P H Seeburg; B Sakmann
Journal:  Neuron       Date:  1990-12       Impact factor: 17.173

7.  LC3 and GATE-16/GABARAP subfamilies are both essential yet act differently in autophagosome biogenesis.

Authors:  Hilla Weidberg; Elena Shvets; Tomer Shpilka; Frida Shimron; Vera Shinder; Zvulun Elazar
Journal:  EMBO J       Date:  2010-04-23       Impact factor: 11.598

8.  The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.

Authors:  Jing-Qiong Kang; Wangzhen Shen; Robert L Macdonald
Journal:  J Neurosci       Date:  2009-03-04       Impact factor: 6.167

9.  Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.

Authors:  Jing-Qiong Kang; Wangzhen Shen; Robert L Macdonald
Journal:  Ann Neurol       Date:  2013-09-16       Impact factor: 10.422

10.  The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon.

Authors:  P Leeds; S W Peltz; A Jacobson; M R Culbertson
Journal:  Genes Dev       Date:  1991-12       Impact factor: 11.361
  10 in total

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