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    SOD1 superoxide dismutase 1 [ Homo sapiens (human) ]

    Gene ID: 6647, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Skeletal myotubes expressing ALS mutant SOD1 induce pathogenic changes, impair mitochondrial axonal transport, and trigger motoneuron death.

    Skeletal myotubes expressing ALS mutant SOD1 induce pathogenic changes, impair mitochondrial axonal transport, and trigger motoneuron death.
    Martínez P, Silva M, Abarzúa S, Tevy MF, Jaimovich E, Constantine-Paton M, Bustos FJ, van Zundert B., Free PMC Article

    10/31/2024
    Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.

    Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.
    Wang PS, Yang XX, Wei Q, Lv YT, Wu ZY, Li HF., Free PMC Article

    10/23/2024
    Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Perturb mRNA Splicing through Aberrant Interactions with SRSF2.

    Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Perturb mRNA Splicing through Aberrant Interactions with SRSF2.
    Chen X, Cao Z, Wang Y.,

    09/10/2024
    SoDCoD: a comprehensive database of Cu/Zn superoxide dismutase conformational diversity caused by ALS-linked gene mutations and other perturbations.

    SoDCoD: a comprehensive database of Cu/Zn superoxide dismutase conformational diversity caused by ALS-linked gene mutations and other perturbations.
    Tabuchi R, Momozawa Y, Hayashi Y, Noma H, Ichijo H, Fujisawa T., Free PMC Article

    08/12/2024
    Amyloidogenic regions in beta-strands II and III modulate the aggregation and toxicity of SOD1 in living cells.

    Amyloidogenic regions in beta-strands II and III modulate the aggregation and toxicity of SOD1 in living cells.
    McAlary L, Nan JR, Shyu C, Sher M, Plotkin SS, Cashman NR., Free PMC Article

    07/9/2024
    High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.

    High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
    Calvo A, Moglia C, Canosa A, Manera U, Vasta R, Grassano M, Daviddi M, De Mattei F, Matteoni E, Gallone S, Brunetti M, Sbaiz L, Cabras S, Peotta L, Palumbo F, Iazzolino B, Mora G, Chiò A.

    07/8/2024
    SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells.

    SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells.
    Zhang L, Hsu JI, Braekeleer ED, Chen CW, Patel TD, Martell AG, Guzman AG, Wohlan K, Waldvogel SM, Uryu H, Tovy A, Callen E, Murdaugh RL, Richard R, Jansen S, Vissers L, de Vries BBA, Nussenzweig A, Huang S, Coarfa C, Anastas J, Takahashi K, Vassiliou G, Goodell MA., Free PMC Article

    06/28/2024
    Observing Patterns in MRI With QSM in Patients With SOD1 Genetic ALS (5047).

    Observing Patterns in MRI With QSM in Patients With SOD1 Genetic ALS (5047).

    06/26/2024
    Tryptophan residues in TDP-43 and SOD1 modulate the cross-seeding and toxicity of SOD1.

    Tryptophan residues in TDP-43 and SOD1 modulate the cross-seeding and toxicity of SOD1.
    Pokrishevsky E, DuVal MG, McAlary L, Louadi S, Pozzi S, Roman A, Plotkin SS, Dijkstra A, Julien JP, Allison WT, Cashman NR., Free PMC Article

    06/6/2024
    Pan-neuronal expression of human mutant SOD1 in Drosophila impairs survival and motor performance, induces early neuroinflammation and chromosome aberrations.

    Pan-neuronal expression of human mutant SOD1 in Drosophila impairs survival and motor performance, induces early neuroinflammation and chromosome aberrations.
    Liguori F, Alberti F, Amadio S, Angelini DF, Pilesi E, Vitale G, Tesoriere G, Borsellino G, Vernì F, Volonté C.

    05/29/2024
    Association of SOD1 gene variants (50 bp Ins/Del, rs4817415, rs2070424, rs1041740, rs17880135) with plasma protein levels in vitiligo patients and their analysis in silico.

    Association of SOD1 gene variants (50 bp Ins/Del, rs4817415, rs2070424, rs1041740, rs17880135) with plasma protein levels in vitiligo patients and their analysis in silico.
    Gómez-Meda BC, Zúñiga-González GM, Bañuelos-Díaz LD, Oceguera-Angel MP, Galindo-Gómez A, Sánchez-Parada MG, Garibaldi-Ríos AF, Torres-Mendoza BM, Zamora-Perez AL, Delgado-Saucedo JI, Márquez-Rosales MG, Gallegos-Arreola MP.

    04/8/2024
    The evaluation of superoxide dismutase 1 gene insertion/deletion variant in athletes.

    The evaluation of superoxide dismutase 1 gene insertion/deletion variant in athletes.
    Nursal AF, Ünver Ş, Yiğit S, Orhan ÖM, Atan T., Free PMC Article

    04/3/2024
    Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants.

    Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants.
    Dalla Bella E, Bersano E, Bruzzone MG, Gellera C, Pensato V, Lauria G, Consonni M., Free PMC Article

    03/19/2024
    Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.

    Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.
    Domi T, Schito P, Sferruzza G, Russo T, Pozzi L, Agosta F, Carrera P, Riva N, Filippi M, Quattrini A, Falzone YM.

    02/28/2024
    Superoxide Dismutase (rs2070424, rs4880, rs2536512) and Catalase (rs794316, rs1001179) SNPs and their Association with Breast Cancer Risk: Findings from a Hospital Based Case-Control Study.

    Superoxide Dismutase (rs2070424, rs4880, rs2536512) and Catalase (rs794316, rs1001179) SNPs and their Association with Breast Cancer Risk: Findings from a Hospital Based Case-Control Study.
    Datkhile KD, Gudur RA, Bhosale SJ, Gudur AK, Durgawale PP, Jagdale NJ, More AL, Patil SR., Free PMC Article

    02/16/2024
    Impact of a 50bp insertion/deletion polymorphism of the superoxide dismutase-1 on oxidative stress status and risk of keratoconus.

    Impact of a 50bp insertion/deletion polymorphism of the superoxide dismutase-1 on oxidative stress status and risk of keratoconus.
    Sedaghat MR, Shiri H, Tavakkol-Afshari J, Norouzmahani ME, Bahri F, Fooladi S, Momeni-Moghaddam H, Danesh Z, Nikpoor AR, Momeni-Moghaddam MA, Nematollahi MH, Sadeghi J.

    02/12/2024
    ALS-linked SOD1 mutations impair mitochondrial-derived vesicle formation and accelerate aging.

    ALS-linked SOD1 mutations impair mitochondrial-derived vesicle formation and accelerate aging.
    Guo Y, Guan T, Yu Q, Sanghai N, Shafiq K, Li M, Jiao X, Na D, Zhang G, Kong J., Free PMC Article

    02/1/2024
    Unveiling local and global conformational changes and allosteric communications in SOD1 systems using molecular dynamics simulation and network analyses.

    Unveiling local and global conformational changes and allosteric communications in SOD1 systems using molecular dynamics simulation and network analyses.
    Basith S, Manavalan B, Lee G.

    01/15/2024
    CRISPR/Cas9 screens unravel miR-3689a-3p regulating sorafenib resistance in hepatocellular carcinoma via suppressing CCS/SOD1-dependent mitochondrial oxidative stress.

    CRISPR/Cas9 screens unravel miR-3689a-3p regulating sorafenib resistance in hepatocellular carcinoma via suppressing CCS/SOD1-dependent mitochondrial oxidative stress.
    Lu Y, Chan YT, Wu J, Feng Z, Yuan H, Li Q, Xing T, Xu L, Zhang C, Tan HY, Lee TK, Feng Y, Wang N.

    11/22/2023
    Extreme diversity of 12 cations in folding ALS-linked hSOD1 unveils novel hSOD1-dependent mechanisms for Fe[2+]/Cu[2+]-induced cytotoxicity.

    Extreme diversity of 12 cations in folding ALS-linked hSOD1 unveils novel hSOD1-dependent mechanisms for Fe(2+)/Cu(2+)-induced cytotoxicity.
    Lim L, Kang J, Song J., Free PMC Article

    11/18/2023
    Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries.

    Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries.
    Martinelli I, Ghezzi A, Zucchi E, Gianferrari G, Ferri L, Moglia C, Manera U, Solero L, Vasta R, Canosa A, Grassano M, Brunetti M, Mazzini L, De Marchi F, Simonini C, Fini N, Vinceti M, Pinti M, Chiò A, Calvo A, Mandrioli J.

    11/13/2023
    In silico analysis of SOD1 aggregation inhibition modes of tertiary amine pyrazolone and pyrano coumarin ferulate as ALS drug candidates.

    In silico analysis of SOD1 aggregation inhibition modes of tertiary amine pyrazolone and pyrano coumarin ferulate as ALS drug candidates.
    Rahman A, Saikia B, Baruah A.

    10/12/2023
    Glycation modulates superoxide dismutase 1 aggregation and toxicity in models of sporadic amyotrophic lateral sclerosis.

    Glycation modulates superoxide dismutase 1 aggregation and toxicity in models of sporadic amyotrophic lateral sclerosis.
    Monteiro Neto JR, Ribeiro GD, Magalhães RSS, Follmer C, Outeiro TF, Eleutherio ECA.

    09/26/2023
    Role of charged residues of the "electrostatic loop" of hSOD1 in promotion of aggregation: Implications for the mechanism of ALS-associated mutations under amyloidogenic conditions.

    Role of charged residues of the "electrostatic loop" of hSOD1 in promotion of aggregation: Implications for the mechanism of ALS-associated mutations under amyloidogenic conditions.
    Mavadat E, Seyedalipour B, Hosseinkhani S, Colagar AH.

    09/7/2023
    Presymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers.

    Presymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers.
    Bede P, Lulé D, Müller HP, Tan EL, Dorst J, Ludolph AC, Kassubek J., Free PMC Article

    08/14/2023
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