Literature DB >> 16973338

Amyotrophic lateral sclerosis as a complex genetic disease.

Claire L Simpson1, Ammar Al-Chalabi.   

Abstract

In complex diseases like ALS, there are multiple genetic and environmental factors all contributing to disease liability. The genetic factors causing susceptibility to developing ALS can be considered a spectrum from single genes with large effect sizes causing classical Mendelian ALS, to genes of smaller effect, producing apparently sporadic disease. We examine the statistical genetic principles that underpin this model and review what is known about ALS as a disease with complex genetics.

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Year:  2006        PMID: 16973338     DOI: 10.1016/j.bbadis.2006.08.001

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


  29 in total

1.  The role of environmental mercury, lead and pesticide exposure in development of amyotrophic lateral sclerosis.

Authors:  Frank O Johnson; William D Atchison
Journal:  Neurotoxicology       Date:  2009-07-24       Impact factor: 4.294

2.  A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD.

Authors:  Giuseppe Borghero; Gianluca Floris; Antonino Cannas; Maria G Marrosu; Maria R Murru; Emanuela Costantino; Leslie D Parish; Maura Pugliatti; Anna Ticca; Bryan J Traynor; Andrea Calvo; Stefania Cammarosano; Cristina Moglia; Angelina Cistaro; Maura Brunetti; Gabriella Restagno; Adriano Chiò
Journal:  Neurobiol Aging       Date:  2011-07-30       Impact factor: 4.673

3.  Trafficking of alpha4* nicotinic receptors revealed by superecliptic phluorin: effects of a beta4 amyotrophic lateral sclerosis-associated mutation and chronic exposure to nicotine.

Authors:  Christopher I Richards; Rahul Srinivasan; Cheng Xiao; Elisha D W Mackey; Julie M Miwa; Henry A Lester
Journal:  J Biol Chem       Date:  2011-07-18       Impact factor: 5.157

4.  Therapy development in spinal muscular atrophy.

Authors:  Michael Sendtner
Journal:  Nat Neurosci       Date:  2010-07       Impact factor: 24.884

5.  How does the genetic assassin select its neuronal target?

Authors:  James C Stevens; Elizabeth M C Fisher; Simon Mead
Journal:  Mamm Genome       Date:  2011-03-04       Impact factor: 2.957

6.  DNA-triggered aggregation of copper, zinc superoxide dismutase in the presence of ascorbate.

Authors:  Jun Yin; Si Hu; Wei Jiang; Liang Liu; Shemin Lan; Xuegang Song; Changlin Liu
Journal:  PLoS One       Date:  2010-08-20       Impact factor: 3.240

7.  The Neurotoxic TAU45-230 Fragment Accumulates in Upper and Lower Motor Neurons in Amyotrophic Lateral Sclerosis Subjects.

Authors:  Claudia R Vintilescu; Sana Afreen; Ashlee E Rubino; Adriana Ferreira
Journal:  Mol Med       Date:  2016-08-03       Impact factor: 6.354

8.  Branched-chain amino acids induce neurotoxicity in rat cortical cultures.

Authors:  Valentina Contrusciere; Silvia Paradisi; Andrea Matteucci; Fiorella Malchiodi-Albedi
Journal:  Neurotox Res       Date:  2009-09-15       Impact factor: 3.911

Review 9.  Current and future directions in genomics of amyotrophic lateral sclerosis.

Authors:  John Ravits; Bryan J Traynor
Journal:  Phys Med Rehabil Clin N Am       Date:  2008-08       Impact factor: 1.784

10.  Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.

Authors:  Claire L Simpson; Robin Lemmens; Katarzyna Miskiewicz; Wendy J Broom; Valerie K Hansen; Paul W J van Vught; John E Landers; Peter Sapp; Ludo Van Den Bosch; Joanne Knight; Benjamin M Neale; Martin R Turner; Jan H Veldink; Roel A Ophoff; Vineeta B Tripathi; Ana Beleza; Meera N Shah; Petroula Proitsi; Annelies Van Hoecke; Peter Carmeliet; H Robert Horvitz; P Nigel Leigh; Christopher E Shaw; Leonard H van den Berg; Pak C Sham; John F Powell; Patrik Verstreken; Robert H Brown; Wim Robberecht; Ammar Al-Chalabi
Journal:  Hum Mol Genet       Date:  2008-11-07       Impact factor: 6.150

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