Abati E, Bresolin N, Comi G, Corti S (2020) Silence superoxide dismutase 1 (SOD1): a promising therapeutic target for amyotrophic lateral sclerosis (ALS). Expert Opin Ther Targets 24:295–310

CAS  PubMed  Google Scholar 

Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 76:7.20. 21–27.20. 41

Amir M, Ahmad S, Ahamad S, Kumar V, Mohammad T, Dohare R, Alajmi MF, Rehman T, Hussain A, Islam A (2019a) Impact of Gln94Glu mutation on the structure and function of protection of telomere 1, a cause of cutaneous familial melanoma. J Biomol Struct Dyn. https://doi.org/10.1080/07391102.2019.1610500

PubMed  Google Scholar 

Amir M, Kumar V, Mohammad T, Dohare R, Hussain A, Rehman MT, Alam P, Alajmi MF, Islam A, Ahmad F (2019) Investigation of deleterious effects of nsSNPs in the POT1 gene: a structural genomics-based approach to understand the mechanism of cancer development. J Cell Biochem 120:10281–10294

CAS  PubMed  Google Scholar 

Amir M, Ahamad S, Mohammad T, Jairajpuri DS, Hasan GM, Dohare R, Islam A, Ahmad F, Hassan MI (2021) Investigation of conformational dynamics of Tyr89Cys mutation in protection of telomeres 1 gene associated with familial melanoma. J Biomol Struct Dyn 39:35–44

CAS  PubMed  Google Scholar 

Aryapadi V, Trivedi J (2025) Atypical presentation of amyotrophic lateral sclerosis with SOD1-H47R mutation. BMJ Case Rep CP 18:e263293

Google Scholar 

Ashkaran F, Seyedalipour B, Baziyar P, Hosseinkhani S (2024) Mutation/metal deficiency in the “electrostatic loop” enhanced aggregation process in apo/holo SOD1 variants: implications for ALS diseases. BMC Chem 18:177

CAS  PubMed  PubMed Central  Google Scholar 

Bank PD (1971) Protein data bank. Nat New Biol 233:223

Google Scholar 

Baziyar P, Seyedalipour B, Hosseinkhani S (2022) Zinc binding loop mutations of hSOD1 promote amyloid fibrils under physiological conditions: implications for initiation of amyotrophic lateral sclerosis. Biochimie 199:170–181

CAS  PubMed  Google Scholar 

Berdyński M, Miszta P, Safranow K, Andersen PM, Morita M, Filipek S, Żekanowski C, Kuźma-Kozakiewicz M (2022) SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity. Sci Rep 12:103

PubMed  PubMed Central  Google Scholar 

Calabrese R, Capriotti E, Casadio R (2008) PhD-SNP: a web server for the prediction of human genetic diseases associated to missense single nucleotide polymorphisms. EMBNET08, 78–78, ITA

Candelise N, Scaricamazza S, Salvatori I, Ferri A, Valle C, Manganelli V, Garofalo T, Sorice M, Misasi R (2021) Protein aggregation landscape in neurodegenerative diseases: clinical relevance and future applications. Int J Mol Sci 22:6016

CAS  PubMed  PubMed Central  Google Scholar 

Chen J, Schafer NP, Wolynes PG, Clementi C (2019) Localizing frustration in proteins using all-atom energy functions. J Phys Chem B 123:4497–4504

CAS  PubMed  PubMed Central  Google Scholar 

Chen Y, Lu H, Zhang N, Zhu Z, Wang S, Li M (2020) PremPS: predicting the impact of missense mutations on protein stability. PLoS Comput Biol 16:e1008543

CAS  PubMed  PubMed Central  Google Scholar 

Chen L-X, Xu H-F, Wang P-S, Yang X-X, Wu Z-Y, Li H-F (2021) SOD1 mutation spectrum and natural history of ALS patients in a 15-year cohort in southeastern China. Front Genet 12:746060

CAS  PubMed  PubMed Central  Google Scholar 

Choudhury A, Mohammad T, Samarth N, Hussain A, Rehman MT, Islam A, Alajmi MF, Singh S, Hassan MI (2021) Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1. Sci Rep 11:10202

CAS  PubMed  PubMed Central  Google Scholar 

Choudhury A, Mohammad T, Anjum F, Shafie A, Singh IK, Abdullaev B, Pasupuleti VR, Adnan M, Yadav DK, Hassan MI (2022) Comparative analysis of web-based programs for single amino acid substitutions in proteins. PLoS One 17:e0267084

CAS  PubMed  PubMed Central  Google Scholar 

Clarke B (2019) Investigating stress responses in models of Amyotrophic Lateral Sclerosis. UCL (University College London)

Cunningham F, Allen JE, Allen J, Alvarez-Jarreta J, Amode MR, Armean IM, Austine-Orimoloye O, Azov AG, Barnes I, Bennett R (2022) Ensembl 2022. Nucleic Acids Res 50:D988–D995

CAS  PubMed  Google Scholar 

Das A, Plotkin SS (2013) Mechanical probes of SOD1 predict systematic trends in metal and dimer affinity of ALS-associated mutants. J Mol Biol 425:850–874

CAS  PubMed  Google Scholar 

De La Cruz E, Esselin F, Polge A, Mouzat K, Guissart C (2024) Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment. J Neurol Neurosurg Psychiatry 95:1219–1220

PubMed  Google Scholar 

Duranti E, Villa C (2022) Molecular investigations of protein aggregation in the pathogenesis of amyotrophic lateral sclerosis. Int J Mol Sci 24:704

PubMed  PubMed Central  Google Scholar 

Ferraroni M, Rypniewski W, Wilson K, Viezzoli MS, Banci L, Bertini I, Mangani S (1999) The crystal structure of the monomeric human SOD mutant F50E/G51E/E133Q at atomic resolution. The enzyme mechanism revisited. J Mol Biol 288:413–426

CAS  PubMed  Google Scholar 

Fuglestad B, Gasper PM, McCammon JA, Markwick PR, Komives EA (2013) Correlated motions and residual frustration in thrombin. J Phys Chem B 117:12857–12863

CAS  PubMed  PubMed Central  Google Scholar 

Gandhi J, Antonelli AC, Afridi A, Vatsia S, Joshi G, Romanov V, Murray IV, Khan SA (2019) Protein misfolding and aggregation in neurodegenerative diseases: a review of pathogeneses, novel detection strategies, and potential therapeutics. Rev Neurosci 30:339–358

PubMed  Google Scholar 

Guharoy M, Chakrabarti P (2005) Conservation and relative importance of residues across protein-protein interfaces. Proc Natl Acad Sci 102:15447–15452

CAS  PubMed  PubMed Central  Google Scholar 

Huai J, Zhang Z (2019) Structural properties and interaction partners of familial ALS-associated SOD1 mutants. Front Neurol 10:527

PubMed  PubMed Central  Google Scholar 

Kaur SJ, McKeown SR, Rashid S (2016) Mutant SOD1 mediated pathogenesis of amyotrophic lateral sclerosis. Gene 577:109–118

CAS  PubMed  Google Scholar 

Keerthana S, Kolandaivel P (2015) Study of mutation and misfolding of Cu-Zn SOD1 protein. J Biomol Struct Dyn 33:167–183

CAS  PubMed  Google Scholar 

Laimer J, Hiebl-Flach J, Lengauer D, Lackner P (2016) MAESTROweb: a web server for structure-based protein stability prediction. Bioinformatics 32:1414–1416

CAS  PubMed  Google Scholar 

Ly CV, Ireland MD, Self WK, Bollinger J, Jockel-Balsarotti J, Herzog H, Allred P, Miller L, Doyle M, Anez-Bruzual I (2023) Protein kinetics of superoxide dismutase-1 in familial and sporadic amyotrophic lateral sclerosis. Ann Clin Transl Neurol 10:1012–1024

CAS  PubMed  PubMed Central  Google Scholar 

Manieri TM, Sensi SL, Squitti R, Cerchiaro G (2021) Structural effects of stabilization and complexation of a zinc-deficient superoxide dismutase. Heliyon 7:e06100

CAS  PubMed  PubMed Central  Google Scholar 

Martinelli I, Zucchi E, Simonini C, Gianferrari G, Zamboni G, Pinti M, Mandrioli J (2023) The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis. Neural Regen Res 18:1427–1433

CAS  PubMed  Google Scholar 

Mehta P, Raymond J, Nair T, Han M, Berry J, Punjani R, Larson T, Mohidul S, Horton DK (2025) Amyotrophic lateral sclerosis estimated prevalence cases from 2022 to 2030, data from the national ALS Registry. Amyotroph Lateral Scler Frontotemporal Degener 26:290–295

Mera-Adasme R, Erdmann H, Bereźniak T, Ochsenfeld C (2016) Destabilization of the metal site as a hub for the pathogenic mechanism of five ALS-linked mutants of copper, zinc superoxide dismutase. Metallomics 8:1141–1150

CAS  PubMed  Google Scholar 

Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812–3814

CAS  PubMed  PubMed Central  Google Scholar 

Nogueira-Machado JA, Lima E Silva FDC, Rocha-Silva F, Gomes N (2025) Amyotrophic lateral sclerosis (ALS): an overview of genetic and metabolic signaling mechanisms. CNS, Neurological Disorders-Drug Targets 24:83–90

CAS  PubMed  Google Scholar 

Noorbakhsh Varnosfaderani SM, Sadat Haeri M, Arian AS, Yousefi Rad A, Yazdanpour M, Mojahedian F, Yaghoubzad-Maleki M, Zalpoor H, Baziyar P, Nabi-Afjadi M (2025) Fighting against amyotrophic lateral sclerosis (ALS) with flavonoids: a computational approach to inhibit superoxide dismutase (SOD1) mutant aggregation. J Biomol Struct Dyn 43:419–436

CAS  PubMed  Google Scholar 

Paladin L, Piovesan D, Tosatto SC (2017) SODA: prediction of protein solubility from disorder and aggregation propensity. Nucleic Acids Res 45:W236–W240

CAS  PubMed  PubMed Central  Google Scholar 

Parra RG, Schafer NP, Radusky LG, Tsai M-Y, Guzovsky AB, Wolynes PG, Ferreiro DU (2016) Protein frustratometer 2: a tool to localize energetic frustration in