Literature DB >> 19847927

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

Paul N Valdmanis1, Veronique V Belzil, James Lee, Patrick A Dion, Judith St-Onge, Pascale Hince, Benoit Funalot, Philippe Couratier, Pierre Clavelou, William Camu, Guy A Rouleau.   

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Year:  2009        PMID： 19847927     DOI： 10.1111/j.1469-1809.2009.00546.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


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  11 in total

Review 1.  Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Authors:  Peter M Andersen; Ammar Al-Chalabi
Journal:  Nat Rev Neurol       Date:  2011-10-11       Impact factor: 42.937

Review 2.  Deep intronic mutations and human disease.

Authors:  Rita Vaz-Drago; Noélia Custódio; Maria Carmo-Fonseca
Journal:  Hum Genet       Date:  2017-05-12       Impact factor: 4.132

3.  Exome sequencing reveals VCP mutations as a cause of familial ALS.

Authors:  Janel O Johnson; Jessica Mandrioli; Michael Benatar; Yevgeniya Abramzon; Vivianna M Van Deerlin; John Q Trojanowski; J Raphael Gibbs; Maura Brunetti; Susan Gronka; Joanne Wuu; Jinhui Ding; Leo McCluskey; Maria Martinez-Lage; Dana Falcone; Dena G Hernandez; Sampath Arepalli; Sean Chong; Jennifer C Schymick; Jeffrey Rothstein; Francesco Landi; Yong-Dong Wang; Andrea Calvo; Gabriele Mora; Mario Sabatelli; Maria Rosaria Monsurrò; Stefania Battistini; Fabrizio Salvi; Rossella Spataro; Patrizia Sola; Giuseppe Borghero; Giuliana Galassi; Sonja W Scholz; J Paul Taylor; Gabriella Restagno; Adriano Chiò; Bryan J Traynor
Journal:  Neuron       Date:  2010-12-09       Impact factor: 17.173

4.  Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

Authors:  Magdalini Polymenidou; Clotilde Lagier-Tourenne; Kasey R Hutt; Stephanie C Huelga; Jacqueline Moran; Tiffany Y Liang; Shuo-Chien Ling; Eveline Sun; Edward Wancewicz; Curt Mazur; Holly Kordasiewicz; Yalda Sedaghat; John Paul Donohue; Lily Shiue; C Frank Bennett; Gene W Yeo; Don W Cleveland
Journal:  Nat Neurosci       Date:  2011-02-27       Impact factor: 24.884

5.  Astragaloside IV and echinacoside benefit neuronal properties via direct effects and through upregulation of SOD1 astrocyte function in vitro.

Authors:  Yang Tian; Shijie Jin; Vanessa Promes; Xuemei Liu; Yunling Zhang
Journal:  Naunyn Schmiedebergs Arch Pharmacol       Date:  2020-11-20       Impact factor: 3.000

6.  Exploration of molecular factors impairing superoxide dismutase isoforms activity in human senile cataractous lenses.

Authors:  Sankaranarayanan Rajkumar; Abhay R Vasavada; Mamidipudi R Praveen; Rajendran Ananthan; Geereddy B Reddy; Harsha Tripathi; Darshini A Ganatra; Anshul I Arora; Alpesh R Patel
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-09-17       Impact factor: 4.799

7.  Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations.

Authors:  Mattéa J Finelli; Kevin X Liu; Yixing Wu; Peter L Oliver; Kay E Davies
Journal:  Hum Mol Genet       Date:  2015-03-19       Impact factor: 6.150

8.  SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.

Authors:  Mariusz Berdyński; Przemysław Miszta; Krzysztof Safranow; Peter M Andersen; Mitsuya Morita; Sławomir Filipek; Cezary Żekanowski; Magdalena Kuźma-Kozakiewicz
Journal:  Sci Rep       Date:  2022-01-07       Impact factor: 4.379

9.  Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Authors:  Niall P Keegan; Steve D Wilton; Sue Fletcher
Journal:  Front Genet       Date:  2022-01-24       Impact factor: 4.772

10.  Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.

Authors:  Claire Guissart; Kevin Mouzat; Jovana Kantar; Baptiste Louveau; Paul Vilquin; Anne Polge; Cédric Raoul; Serge Lumbroso
Journal:  Sci Rep       Date:  2020-11-26       Impact factor: 4.379
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