Literature DB >> 30870681

Genetics of amyotrophic lateral sclerosis: A review.

Stéphane Mathis1, Cyril Goizet2, Antoine Soulages3, Jean-Michel Vallat4, Gwendal Le Masson5.   

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways, invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but familial forms of the disease (FALS) constitute 10% of the cases. Since the first identification of a causative gene in the 1990s and with recent advances in genetics, more than twenty genes have now been linked to FALS. This increased number of genes led to a tremendous amount of research, clearly contributed to a better understanding of the pathophysiology of this disorder, and paved the way for the development of new therapeutics and new hope for this fatal disease.
Copyright © 2019 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Amyotrophic lateral sclerosis; C9ORF72; Classification; FUS; Genetics; SOD1; TDP-43

Mesh:

Substances:

Year:  2019        PMID: 30870681     DOI: 10.1016/j.jns.2019.02.030

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  52 in total

1.  Chemical chaperones targeted to the endoplasmic reticulum (ER) and lysosome prevented neurodegeneration in a C9orf72 repeat expansion drosophila amyotrophic lateral sclerosis (ALS) model.

Authors:  Salome Azoulay-Ginsburg; Michela Di Salvio; Michal Weitman; Michal Afri; Sara Ribeiro; Simon Ebbinghaus; Gianluca Cestra; Arie Gruzman
Journal:  Pharmacol Rep       Date:  2021-03-04       Impact factor: 3.024

2.  Alternative Splicing in Human Biology and Disease.

Authors:  Daniel Jutzi; Marc-David Ruepp
Journal:  Methods Mol Biol       Date:  2022

3.  Long-term Traffic-related Air Pollutant Exposure and Amyotrophic Lateral Sclerosis Diagnosis in Denmark: A Bayesian Hierarchical Analysis.

Authors:  Robbie M Parks; Yanelli Nunez; Arin A Balalian; Elizabeth A Gibson; Johnni Hansen; Ole Raaschou-Nielsen; Matthias Ketzel; Jibran Khan; Jørgen Brandt; Roel Vermeulen; Susan Peters; Jeff Goldsmith; Diane B Re; Marc G Weisskopf; Marianthi-Anna Kioumourtzoglou
Journal:  Epidemiology       Date:  2022-07-29       Impact factor: 4.860

Review 4.  Therapeutic Potential of Astrocyte Transplantation.

Authors:  Nataly Hastings; Wei-Li Kuan; Andrew Osborne; Mark R N Kotter
Journal:  Cell Transplant       Date:  2022 Jan-Dec       Impact factor: 4.139

Review 5.  The clinical trial landscape in amyotrophic lateral sclerosis-Past, present, and future.

Authors:  Heike J Wobst; Korrie L Mack; Dean G Brown; Nicholas J Brandon; James Shorter
Journal:  Med Res Rev       Date:  2020-02-11       Impact factor: 12.944

Review 6.  New Roles for Canonical Transcription Factors in Repeat Expansion Diseases.

Authors:  Lindsey D Goodman; Nancy M Bonini
Journal:  Trends Genet       Date:  2019-12-11       Impact factor: 11.639

7.  Modulation of the IGF1R-MTOR pathway attenuates motor neuron toxicity of human ALS SOD1G93A astrocytes.

Authors:  Veronica Granatiero; Nicole M Sayles; Angela M Savino; Csaba Konrad; Michael G Kharas; Hibiki Kawamata; Giovanni Manfredi
Journal:  Autophagy       Date:  2021-03-22       Impact factor: 16.016

8.  Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis.

Authors:  Jennifer A Fifita; Sandrine Chan Moi Fat; Emily P McCann; Kelly L Williams; Natalie A Twine; Denis C Bauer; Dominic B Rowe; Roger Pamphlett; Matthew C Kiernan; Vanessa X Tan; Ian P Blair; Gilles J Guillemin
Journal:  Front Immunol       Date:  2021-06-14       Impact factor: 7.561

Review 9.  Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.

Authors:  Hailee F Scelsi; Brett M Barlow; Emily G Saccuzzo; Raquel L Lieberman
Journal:  Hum Mutat       Date:  2021-06-24       Impact factor: 4.700

10.  Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.

Authors:  Merel O Mol; Tsz H Wong; Shamiram Melhem; Sreya Basu; Riccardo Viscusi; Niels Galjart; Annemieke J M Rozemuller; Claudia Fallini; John E Landers; Laura Donker Kaat; Harro Seelaar; Jeroen G J van Rooij; John C van Swieten
Journal:  Neurol Genet       Date:  2021-05-18
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