Associated Papers
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
40060668 (PubMed )
Supplement: media-2.xlsx › abundance_map_scores_LLRps
Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.
Pereira GRC et al.
Plos One, 2021
33630959 (PubMed )
Supplement: pone.0247841.s001.docx
Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis.
Yousefian-Jazi A et al.
Cells, 2020
Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?
Perrone B et al.
Expert Review of Molecular Diagnostics, 2020
Experimental Mutations in Superoxide Dismutase 1 Provide Insight into Potential Mechanisms Involved in Aberrant Aggregation in Familial Amyotrophic Lateral Sclerosis.
Crown AM et al.
G3 (bethesda, Md.), 2019
Computational Investigation on Electrostatic Loop Mutants Instigating Destabilization and Aggregation on Human SOD1 Protein Causing Amyotrophic Lateral Sclerosis.
Srinivasan E et al.
The Protein Journal, 2019
Screening for TUBA4A mutations in a large Chinese cohort of patients with ALS: re-evaluating the pathogenesis of TUBA4A in ALS.
Li J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
C9orf72 repeat expansions are not detected in Chinese patients with familial ALS.
Liu R et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis.
Moreira LG et al.
Plos One, 2013
A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants.
Fujisawa T et al.
Annals of Neurology, 2012
Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases.
Lill CM et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011
Clinical features and Cu/Zn superoxide dismutase gene mutations in two mainland Chinese families with amyotrophic lateral sclerosis.
Zhao G et al.
The International Journal of Neuroscience, 2011
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