Literature DB >> 32415434

A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.

E Srinivasan1, R Rajasekaran2.   

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and is characterized by degeneration and axon loss from the upper motor neuron, that descends from the lower motor neuron in the brain. Over the period, assorted outcomes from medical findings, molecular pathogenesis, and structural and biophysical studies have abetted in providing thoughtful insights underlying the importance of disease-causing genes in ALS. Consequently, numerous mechanisms were proposed for the pathogenesis of ALS, considering protein mutations, aggregation, and misfolding. Besides, the answers to the majority of ALS cases that happen to be sporadic still remain obscure. The application in discovering susceptibility factors in ALS contemplating the genetic factors is to be further dissevered in the future years with innovation in research studies. Hence, this review targets in revisiting the breakthroughs on the disease-causing genes related with ALS.

Entities:  

Keywords:  ALS; Misfolding; Mutations and protein aggregation; SOD1

Mesh:

Substances:

Year:  2020        PMID: 32415434     DOI: 10.1007/s12031-020-01569-w

Source DB:  PubMed          Journal:  J Mol Neurosci        ISSN: 0895-8696            Impact factor:   3.444


  126 in total

1.  Hansa: an automated method for discriminating disease and neutral human nsSNPs.

Authors:  Vishal Acharya; Hampapathalu A Nagarajaram
Journal:  Hum Mutat       Date:  2011-12-09       Impact factor: 4.878

2.  The PRO-ACT database: design, initial analyses, and predictive features.

Authors:  Nazem Atassi; James Berry; Amy Shui; Neta Zach; Alexander Sherman; Ervin Sinani; Jason Walker; Igor Katsovskiy; David Schoenfeld; Merit Cudkowicz; Melanie Leitner
Journal:  Neurology       Date:  2014-10-08       Impact factor: 9.910

3.  Molecular classification of amyotrophic lateral sclerosis by unsupervised clustering of gene expression in motor cortex.

Authors:  Eleonora Aronica; Frank Baas; Anand Iyer; Anneloor L M A ten Asbroek; Giovanna Morello; Sebastiano Cavallaro
Journal:  Neurobiol Dis       Date:  2014-12-10       Impact factor: 5.996

4.  ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.

Authors:  Olubunmi Abel; John F Powell; Peter M Andersen; Ammar Al-Chalabi
Journal:  Hum Mutat       Date:  2012-07-16       Impact factor: 4.878

5.  A computational combinatorial approach identifies a protein inhibitor of superoxide dismutase 1 misfolding, aggregation, and cytotoxicity.

Authors:  Victor Banerjee; Ofek Oren; Efrat Ben-Zeev; Ran Taube; Stanislav Engel; Niv Papo
Journal:  J Biol Chem       Date:  2017-08-02       Impact factor: 5.157

6.  A public resource facilitating clinical use of genomes.

Authors:  Madeleine P Ball; Joseph V Thakuria; Alexander Wait Zaranek; Tom Clegg; Abraham M Rosenbaum; Xiaodi Wu; Misha Angrist; Jong Bhak; Jason Bobe; Matthew J Callow; Carlos Cano; Michael F Chou; Wendy K Chung; Shawn M Douglas; Preston W Estep; Athurva Gore; Peter Hulick; Alberto Labarga; Je-Hyuk Lee; Jeantine E Lunshof; Byung Chul Kim; Jong-Il Kim; Zhe Li; Michael F Murray; Geoffrey B Nilsen; Brock A Peters; Anugraha M Raman; Hugh Y Rienhoff; Kimberly Robasky; Matthew T Wheeler; Ward Vandewege; Daniel B Vorhaus; Joyce L Yang; Luhan Yang; John Aach; Euan A Ashley; Radoje Drmanac; Seong-Jin Kim; Jin Billy Li; Leonid Peshkin; Christine E Seidman; Jeong-Sun Seo; Kun Zhang; Heidi L Rehm; George M Church
Journal:  Proc Natl Acad Sci U S A       Date:  2012-07-13       Impact factor: 11.205

7.  Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.

Authors:  Nael H Alami; Rebecca B Smith; Monica A Carrasco; Luis A Williams; Christina S Winborn; Steve S W Han; Evangelos Kiskinis; Brett Winborn; Brian D Freibaum; Anderson Kanagaraj; Alison J Clare; Nisha M Badders; Bilada Bilican; Edward Chaum; Siddharthan Chandran; Christopher E Shaw; Kevin C Eggan; Tom Maniatis; J Paul Taylor
Journal:  Neuron       Date:  2014-02-05       Impact factor: 17.173

8.  Oligomerization of Cu,Zn-Superoxide Dismutase (SOD1) by Docosahexaenoic Acid and Its Hydroperoxides In Vitro: Aggregation Dependence on Fatty Acid Unsaturation and Thiols.

Authors:  Patricia Postilione Appolinário; Danilo Bilches Medinas; Adriano B Chaves-Filho; Thiago C Genaro-Mattos; José Renato Rosa Cussiol; Luis Eduardo Soares Netto; Ohara Augusto; Sayuri Miyamoto
Journal:  PLoS One       Date:  2015-04-30       Impact factor: 3.240

9.  PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations.

Authors:  Jaroslav Bendl; Jan Stourac; Ondrej Salanda; Antonin Pavelka; Eric D Wieben; Jaroslav Zendulka; Jan Brezovsky; Jiri Damborsky
Journal:  PLoS Comput Biol       Date:  2014-01-16       Impact factor: 4.475

10.  Disease causing mutants of TDP-43 nucleic acid binding domains are resistant to aggregation and have increased stability and half-life.

Authors:  James A Austin; Gareth S A Wright; Seiji Watanabe; J Günter Grossmann; Svetlana V Antonyuk; Koji Yamanaka; S Samar Hasnain
Journal:  Proc Natl Acad Sci U S A       Date:  2014-03-03       Impact factor: 11.205

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  4 in total

1.  Effects of Skin Stimulation on Sensory-Motor Networks Excitability: Possible Implications for Physical Training in Amyotrophic Lateral Sclerosis.

Authors:  Marco Ceccanti; Chiara Cambieri; Laura Libonati; Giorgio Tartaglia; Federica Moret; Matteo Garibaldi; Maurizio Inghilleri
Journal:  Front Neurol       Date:  2022-05-25       Impact factor: 4.086

2.  A Deletion of the Nuclear Localization Signal Domain in the Fus Protein Induces Stable Post-stress Cytoplasmic Inclusions in SH-SY5Y Cells.

Authors:  Antonietta Notaro; Antonella Messina; Vincenzo La Bella
Journal:  Front Neurosci       Date:  2021-12-23       Impact factor: 4.677

3.  Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis.

Authors:  Rupesh Kumar; Shazia Haider
Journal:  IBRO Neurosci Rep       Date:  2021-12-07

4.  Inclusion Formation and Toxicity of the ALS Protein RGNEF and Its Association with the Microtubule Network.

Authors:  Sonja E Di Gregorio; Kathryn Volkening; Michael J Strong; Martin L Duennwald
Journal:  Int J Mol Sci       Date:  2020-08-05       Impact factor: 5.923

  4 in total

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