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. 2020 Nov;70(11):1742-1770.
doi: 10.1007/s12031-020-01569-w. Epub 2020 May 15.

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

E Srinivasan  1 , R Rajasekaran  2
Affiliations

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

E Srinivasan et al. J Mol Neurosci. 2020 Nov.

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.

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

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