Literature DB >> 27113253

ALS: Recent Developments from Genetics Studies.

Martine Therrien1, Patrick A Dion2, Guy A Rouleau3.   

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal disorder that is characterized by a progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10 % of cases have a family history of the disease. High-throughput DNA sequencing and related genomic capture tools are methodological advances which have rapidly contributed to an acceleration in the discovery of genetic risk factors for both familial and sporadic ALS. It is interesting to note that as the number of ALS genes grows, many of the proteins they encode are in shared intracellular processes. This review will summarize some of the recent advances and gene discovery made in ALS.

Entities:  

Keywords:  ALS; Genetics; Motor neuron diseases

Mesh:

Substances:

Year:  2016        PMID: 27113253     DOI: 10.1007/s11910-016-0658-1

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  101 in total

Review 1.  Misfolded SOD1 and ALS: zeroing in on mitochondria.

Authors:  Sarah Pickles; Christine Vande Velde
Journal:  Amyotroph Lateral Scler       Date:  2012-04-03

2.  Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Authors:  P Pasanen; L Myllykangas; M Pöyhönen; S Kiuru-Enari; P J Tienari; H Laaksovirta; J Toppila; E Ylikallio; H Tyynismaa; M Auranen
Journal:  Acta Neurol Scand       Date:  2015-07-30       Impact factor: 3.209

3.  Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis.

Authors:  Shangxi Xiao; Laura MacNair; Philip McGoldrick; Paul M McKeever; Jesse R McLean; Ming Zhang; Julia Keith; Lorne Zinman; Ekaterina Rogaeva; Janice Robertson
Journal:  Ann Neurol       Date:  2015-08-29       Impact factor: 10.422

4.  Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Authors:  Janel O Johnson; Shannon M Glynn; J Raphael Gibbs; Mike A Nalls; Mario Sabatelli; Gabriella Restagno; Vivian E Drory; Adriano Chiò; Ekaterina Rogaeva; Bryan J Traynor
Journal:  Brain       Date:  2014-09-26       Impact factor: 13.501

Review 5.  TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.

Authors:  Clotilde Lagier-Tourenne; Magdalini Polymenidou; Don W Cleveland
Journal:  Hum Mol Genet       Date:  2010-04-15       Impact factor: 6.150

6.  Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.

Authors:  Kon-Ping Lin; Pei-Chien Tsai; Yi-Chu Liao; Wei-Ting Chen; Ching-Piao Tsai; Bing-Wen Soong; Yi-Chung Lee
Journal:  Neurobiol Aging       Date:  2015-02-14       Impact factor: 4.673

7.  De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.

Authors:  Andrea Calvo; Cristina Moglia; Antonio Canosa; Maura Brunetti; Marco Barberis; Bryan J Traynor; Giovanna Carrara; Consuelo Valentini; Gabriella Restagno; Adriano Chiò
Journal:  Neurobiol Aging       Date:  2013-12-27       Impact factor: 4.673

Review 8.  C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Jonathan D Rohrer; Adrian M Isaacs; Sarah Mizielinska; Simon Mead; Tammaryn Lashley; Selina Wray; Katie Sidle; Pietro Fratta; Richard W Orrell; John Hardy; Janice Holton; Tamas Revesz; Martin N Rossor; Jason D Warren
Journal:  Lancet Neurol       Date:  2015-01-29       Impact factor: 44.182

9.  C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.

Authors:  Johnathan Cooper-Knock; Adrian Higginbottom; Natalie Connor-Robson; Nadhim Bayatti; Joanna J Bury; Janine Kirby; Natalia Ninkina; Vladimir L Buchman; Pamela J Shaw
Journal:  Neurology       Date:  2013-10-09       Impact factor: 9.910

10.  Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Authors:  Kevin P Kenna; Russell L McLaughlin; Susan Byrne; Marwa Elamin; Mark Heverin; Elaine M Kenny; Paul Cormican; Derek W Morris; Colette G Donaghy; Daniel G Bradley; Orla Hardiman
Journal:  J Med Genet       Date:  2013-07-23       Impact factor: 6.318

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  19 in total

1.  Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.

Authors:  Mark T W Ebbert; Christian A Ross; Luc J Pregent; Rebecca J Lank; Cheng Zhang; Rebecca B Katzman; Karen Jansen-West; Yuping Song; Edroaldo Lummertz da Rocha; Carla Palmucci; Pamela Desaro; Amelia E Robertson; Ana M Caputo; Dennis W Dickson; Kevin B Boylan; Rosa Rademakers; Tamas Ordog; Hu Li; Veronique V Belzil
Journal:  Acta Neuropathol       Date:  2017-08-14       Impact factor: 17.088

2.  CNS inflammation and neurodegeneration.

Authors:  Tanuja Chitnis; Howard L Weiner
Journal:  J Clin Invest       Date:  2017-09-05       Impact factor: 14.808

3.  Studies of Environmental Risk Factors in Amyotrophic Lateral Sclerosis (ALS) and a Phase I Clinical Trial of L-Serine.

Authors:  Walter G Bradley; R X Miller; T D Levine; E W Stommel; P A Cox
Journal:  Neurotox Res       Date:  2017-05-19       Impact factor: 3.911

4.  Integrative Profiling of Amyotrophic Lateral Sclerosis Lymphoblasts Identifies Unique Metabolic and Mitochondrial Disease Fingerprints.

Authors:  Teresa Cunha-Oliveira; Marcelo Carvalho; Vilma Sardão; Elisabete Ferreiro; Débora Mena; Francisco B Pereira; Fernanda Borges; Paulo J Oliveira; Filomena S G Silva
Journal:  Mol Neurobiol       Date:  2022-08-06       Impact factor: 5.682

5.  Genetics and ALS: Cause for Optimism.

Authors:  Roland Pochet
Journal:  Cerebrum       Date:  2017-05-01

Review 6.  Genetic testing in ALS: A survey of current practices.

Authors:  Alice Vajda; Russell L McLaughlin; Mark Heverin; Owen Thorpe; Sharon Abrahams; Ammar Al-Chalabi; Orla Hardiman
Journal:  Neurology       Date:  2017-02-03       Impact factor: 9.910

Review 7.  ALS Clinical Trials Review: 20 Years of Failure. Are We Any Closer to Registering a New Treatment?

Authors:  Dmitry Petrov; Colin Mansfield; Alain Moussy; Olivier Hermine
Journal:  Front Aging Neurosci       Date:  2017-03-22       Impact factor: 5.750

8.  Genetic Correction of SOD1 Mutant iPSCs Reveals ERK and JNK Activated AP1 as a Driver of Neurodegeneration in Amyotrophic Lateral Sclerosis.

Authors:  Akshay Bhinge; Seema C Namboori; Xiaoyu Zhang; Antonius M J VanDongen; Lawrence W Stanton
Journal:  Stem Cell Reports       Date:  2017-03-30       Impact factor: 7.765

Review 9.  Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?

Authors:  Nathalie Bernard-Marissal; Roman Chrast; Bernard L Schneider
Journal:  Cell Death Dis       Date:  2018-02-28       Impact factor: 8.469

10.  Reduction of microhemorrhages in the spinal cord of symptomatic ALS mice after intravenous human bone marrow stem cell transplantation accompanies repair of the blood-spinal cord barrier.

Authors:  David J Eve; George Steiner; Ajay Mahendrasah; Paul R Sanberg; Crupa Kurien; Avery Thomson; Cesar V Borlongan; Svitlana Garbuzova-Davis
Journal:  Oncotarget       Date:  2018-01-31
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