SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity
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Title
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity
Authors
Keywords
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Journal
Scientific Reports
Volume 12, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-01-07
DOI
10.1038/s41598-021-03891-8
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Note: Only part of the references are listed.- Extensive heterogeneity in patients with ALS with mutations in SOD1 in France
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- (2019) Aleksander Kuriata et al. NUCLEIC ACIDS RESEARCH
- SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis
- (2019) Julien H Park et al. BRAIN
- Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
- (2019) Peter M. Andersen et al. NEW ENGLAND JOURNAL OF MEDICINE
- Characterization of the activity, aggregation, and toxicity of heterodimers of WT and ALS-associated mutant Sod1
- (2019) Aline de Araújo Brasil et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- SOD1 in Amyotrophic Lateral Sclerosis: “Ambivalent” Behavior Connected to the Disease
- (2018) Orietta Pansarasa et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
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- (2018) Cheng Zhu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Effects of maturation on the conformational free-energy landscape of SOD1
- (2018) Robert M. Culik et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms
- (2018) Antonio Canosa et al. NEUROBIOLOGY OF AGING
- The multistep hypothesis of ALS revisited
- (2018) Adriano Chiò et al. NEUROLOGY
- Tryptophan 32-mediated SOD1 aggregation is attenuated by pyrimidine-like compounds in living cells
- (2018) Edward Pokrishevsky et al. Scientific Reports
- Single copy/knock-in models of ALS SOD1 in C. elegans suggest loss and gain of function have different contributions to cholinergic and glutamatergic neurodegeneration
- (2018) Saba N. Baskoylu et al. PLoS Genetics
- Implications of fALS Mutations on Sod1 Function and Oligomerization in Cell Models
- (2017) Aline A. Brasil et al. MOLECULAR NEUROBIOLOGY
- Genetics of Amyotrophic Lateral Sclerosis
- (2017) Mehdi Ghasemi et al. Cold Spring Harbor Perspectives in Medicine
- Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives
- (2017) Isil Keskin et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules
- (2016) Haim Ashkenazy et al. NUCLEIC ACIDS RESEARCH
- Mechanism and regulation of the nonsense-mediated decay pathway
- (2016) Nele Hug et al. NUCLEIC ACIDS RESEARCH
- Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center
- (2016) Gerson Chadi et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China
- (2016) Lihua Hou et al. Scientific Reports
- Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges
- (2015) Giuseppe Marangi et al. BRAIN RESEARCH
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Dimerization, Oligomerization, and Aggregation of Human Amyotrophic Lateral Sclerosis Copper/Zinc Superoxide Dismutase 1 Protein Mutant Forms in Live Cells
- (2014) Jiho Kim et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations
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- Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
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- State of play in amyotrophic lateral sclerosis genetics
- (2013) Alan E Renton et al. NATURE NEUROSCIENCE
- Prediction of Disease Causing Non-Synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP
- (2013) Morten Bo Johansen et al. PLoS One
- Structural and Functional Analysis of Human SOD1 in Amyotrophic Lateral Sclerosis
- (2013) Lorenna Giannini Alves Moreira et al. PLoS One
- Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis
- (2013) Magdalena Kuźma-Kozakiewicz et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
- (2012) Olubunmi Abel et al. HUMAN MUTATION
- Prediction of amyloid aggregation in vivo
- (2011) Mattia Belli et al. EMBO REPORTS
- Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6
- (2011) Michela Raponi et al. HUMAN MUTATION
- Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
- (2011) Peter M. Andersen et al. Nature Reviews Neurology
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- (2010) Anna Birve et al. HUMAN MOLECULAR GENETICS
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- (2010) Roberth Byström et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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- (2010) S. Byrne et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- A Mutation that Creates a Pseudoexon inSOD1Causes Familial ALS
- (2009) Paul N. Valdmanis et al. ANNALS OF HUMAN GENETICS
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- (2009) Mercedes Prudencio et al. HUMAN MOLECULAR GENETICS
- A mechanism for low penetrance in an ALS family with a novel SOD1 deletion
- (2009) L. Zinman et al. NEUROLOGY
- Age and founder effect of SOD1 A4V mutation causing ALS
- (2009) M. Saeed et al. NEUROLOGY
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