Literature DB >> 18372902

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Edor Kabashi1, Paul N Valdmanis, Patrick Dion, Dan Spiegelman, Brendan J McConkey, Christine Vande Velde, Jean-Pierre Bouchard, Lucette Lacomblez, Ksenia Pochigaeva, Francois Salachas, Pierre-Francois Pradat, William Camu, Vincent Meininger, Nicolas Dupre, Guy A Rouleau.   

Abstract

Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals--six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)--and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.

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Year:  2008        PMID： 18372902     DOI： 10.1038/ng.132

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  653 in total

1.  Reversible behavioral phenotypes in a conditional mouse model of TDP-43 proteinopathies.

Authors:  Julio A Alfieri; Natalia S Pino; Lionel M Igaz
Journal:  J Neurosci       Date:  2014-11-12       Impact factor: 6.167

Review 2.  Neurodegeneration the RNA way.

Authors:  Abigail J Renoux; Peter K Todd
Journal:  Prog Neurobiol       Date:  2011-11-03       Impact factor: 11.685

Review 3.  Inhibitory synaptic regulation of motoneurons: a new target of disease mechanisms in amyotrophic lateral sclerosis.

Authors:  Lee J Martin; Qing Chang
Journal:  Mol Neurobiol       Date:  2011-11-10       Impact factor: 5.590

Review 4.  Local RNA translation at the synapse and in disease.

Authors:  Liqun Liu-Yesucevitz; Gary J Bassell; Aaron D Gitler; Anne C Hart; Eric Klann; Joel D Richter; Stephen T Warren; Benjamin Wolozin
Journal:  J Neurosci       Date:  2011-11-09       Impact factor: 6.167

Review 5.  TDP-43 aggregation in neurodegeneration: are stress granules the key?

Authors:  Colleen M Dewey; Basar Cenik; Chantelle F Sephton; Brett A Johnson; Joachim Herz; Gang Yu
Journal:  Brain Res       Date:  2012-02-22       Impact factor: 3.252

Review 6.  Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration.

Authors:  Edward B Lee; Virginia M-Y Lee; John Q Trojanowski
Journal:  Nat Rev Neurosci       Date:  2011-11-30       Impact factor: 34.870

7.  Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS.

Authors:  Anika M Helferich; Sarah J Brockmann; Jörg Reinders; Dhruva Deshpande; Karlheinz Holzmann; David Brenner; Peter M Andersen; Susanne Petri; Dietmar R Thal; Jens Michaelis; Markus Otto; Steffen Just; Albert C Ludolph; Karin M Danzer; Axel Freischmidt; Jochen H Weishaupt
Journal:  Cell Mol Life Sci       Date:  2018-07-20       Impact factor: 9.261

8.  Age and founder effect of SOD1 A4V mutation causing ALS.

Authors:  M Saeed; Y Yang; H-X Deng; W-Y Hung; N Siddique; L Dellefave; C Gellera; P M Andersen; T Siddique
Journal:  Neurology       Date:  2009-01-28       Impact factor: 9.910

9.  Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation.

Authors:  Alyssa N Coyne; Shizuka B Yamada; Bhavani Bagevalu Siddegowda; Patricia S Estes; Benjamin L Zaepfel; Jeffrey S Johannesmeyer; Donovan B Lockwood; Linh T Pham; Michael P Hart; Joel A Cassel; Brian Freibaum; Ashley V Boehringer; J Paul Taylor; Allen B Reitz; Aaron D Gitler; Daniela C Zarnescu
Journal:  Hum Mol Genet       Date:  2015-09-18       Impact factor: 6.150

10.  FUS regulates genes coding for RNA-binding proteins in neurons by binding to their highly conserved introns.

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Journal:  RNA       Date:  2013-02-06       Impact factor: 4.942
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