Associated Papers
The potential role of misfolded wild-type SOD1 protein in sporadic amyotrophic lateral sclerosis (ALS): a review of the evidence.
Marlow TR et al.
Neurobiology of Disease, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Implications of ALS-Associated Mutations on Biochemical and Biophysical Features of hSOD1 and Aggregation Formation.
Mohammadi S et al.
Biochemical Genetics, 2024
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
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
Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis.
Yousefian-Jazi A et al.
Cells, 2020
Does wild-type Cu/Zn-superoxide dismutase have pathogenic roles in amyotrophic lateral sclerosis?
Furukawa Y et al.
Translational Neurodegeneration, 2020
Aproximación genética en la esclerosis lateral amiotrófica.
Cervantes-Aragón I et al.
Gaceta Medica De Mexico, 2019
Genetic approach in amyotrophic lateral sclerosis.
Cervantes-Aragón I et al.
Gaceta Medica De Mexico, 2019
Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.
Keskin I et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutase.
Tokuda E et al.
Acta Neuropathologica Communications, 2016
Genotype-property patient-phenotype relations suggest that proteome exhaustion can cause amyotrophic lateral sclerosis.
Kepp KP
Plos One, 2015
A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening.
Da Costa MM et al.
Disease Models & Mechanisms, 2014
Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
Saccon RA et al.
Brain : a Journal of Neurology, 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
A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression.
Keckarević D et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
Brown JA et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012
Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.
Ince PG et al.
Acta Neuropathologica, 2011
Sporadic motor neuron disease in a familial novel SOD1 mutation: incomplete penetrance or chance association?
Conforti FL et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011
A novel L67P SOD1 mutation in an Italian ALS patient.
del Grande A et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011
A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report.
Yamamoto-Watanabe Y et al.
Journal of the Neurological Sciences, 2010
Novel antibodies reveal inclusions containing non-native SOD1 in sporadic ALS patients.
Forsberg K et al.
Plos One, 2010
Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.
Seetharaman SV et al.
Experimental Biology and Medicine (maywood, N.j.), 2009
Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.
Wang Q et al.
Plos Biology, 2008
SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management.
Eisen A et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2008
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.
Mackenzie IR et al.
Annals of Neurology, 2007
Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy.
Stewart HG et al.
Muscle & Nerve, 2006