2022年1月7日 · Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower …

2023年4月5日 · Mutations in superoxide dismutase 1 (SOD1) were the first to be discovered in ALS patients. Here, we investigated the effect of the SOD1A4V mutation on axonal …

The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower motor neuron disease and is …

2009年5月12日 · Background: The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower …

2020年3月5日 · We show that the clinically used ebselen and related analogues promote thermal stability of A4V SOD1 when binding to Cys111 only. We have developed a A4V SOD1 …

2018年6月12日 · Here, we show that Ub homeostasis is altered in a cell model of ALS induced by expressing mutant SOD1 (SOD1 A4V). By monitoring the distribution of Ub in cells expressing …

2024年9月27日 · A defining feature of ALS pathogenesis is protein misfolding and aggregation, evidenced by ubiquitinated protein inclusions containing SOD1 in affected motor neurons. This …

2018年6月1日 · Ubiquitomics analysis indicates that expression of SOD1 A4V is associated with a shift of Ub to a pool of supersaturated proteins, including those associated with oxidative …

2009年12月1日 · Here, we describe crystal structures of metal-free A4V and metal-bound and metal-free G93A pathogenic SOD1 variants. The structures reveal the destabilizing effects of …

2016年2月15日 · Mutated SOD1 gene can acquire both gain and loss of function mutations. The most commonly identified mutations in SOD1 that affect protein activity are D90A, A4V and …