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A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.
Journal of Molecular Neuroscience ( IF 2.8 ) Pub Date : 2020-05-15 , DOI: 10.1007/s12031-020-01569-w
E Srinivasan 1 , R Rajasekaran 1
Affiliation  

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.

中文翻译:

肌萎缩侧索硬化症致病基因的系统综合评价。

肌萎缩侧索硬化症 (ALS) 是一种神经退行性疾病,其特征是上运动神经元的退化和轴突丢失,上运动神经元从大脑的下运动神经元下降。在此期间,来自医学发现、分子发病机制以及结构和生物物理学研究的各种结果促使人们深入了解 ALS 中致病基因的重要性。因此,考虑到蛋白质突变、聚集和错误折叠,提出了多种 ALS 发病机制的机制。此外,大多数偶然发生的 ALS 病例的答案仍然模糊不清。考虑遗传因素的 ALS 易感性因素的发现应用将在未来几年随着研究的创新而进一步分裂。因此,
更新日期:2020-05-15
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