Publications:

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The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.

Biomedicines

Canosa, Antonio A; Calvo, Andrea A; Mora, Gabriele G; Moglia, Cristina C; Brunetti, Maura M; Barberis, Marco M; Borghero, Giuseppe G; Caponnetto, Claudia C; Trojsi, Francesca F; Spataro, Rossella R; Volanti, Paolo P; Simone, Isabella Laura IL; Salvi, Fabrizio F; Logullo, Francesco Ottavio FO; Riva, Nilo N; Tremolizzo, Lucio L; Giannini, Fabio F; Mandrioli, Jessica J; Tanel, Raffaella R; Murru, Maria Rita MR; Mandich, Paola P; Conforti, Francesca Luisa FL; Zollino, Marcella M; Sabatelli, Mario M; Tarlarini, Claudia C; Lunetta, Christian C; Mazzini, Letizia L; D'Alfonso, Sandra S; Guy, Nathalie N; Meininger, Vincent V; Clavelou, Pierre P; Camu, William W; Chiò, Adriano A; On Behalf Of Italsgen Consortium,

Publication Date: 2023-02-24

Variant appearance in text: SOD1: Asp125Gly

PubMed Link: 36979682

Variant Present in the following documents:

• biomedicines-11-00704.pdf

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The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.

Neural Regeneration Research

Martinelli, Ilaria I; Zucchi, Elisabetta E; Simonini, Cecilia C; Gianferrari, Giulia G; Zamboni, Giovanna G; Pinti, Marcello M; Mandrioli, Jessica J

Publication Date: 2023-07

Variant appearance in text: SOD1: D125G

PubMed Link: 36571338

Variant Present in the following documents:

• NRR-18-1427_Suppl2.pdf

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CuATSM effectively ameliorates ALS patient astrocyte-mediated motor neuron toxicity in human in vitro models of amyotrophic lateral sclerosis.

Glia

Dennys, Cassandra N CN; Roussel, Florence F; Rodrigo, Rochelle R; Zhang, Xiaojin X; Sierra Delgado, Andrea A; Hartlaub, Annalisa A; Saelim-Ector, Asya A; Ray, Will W; Heintzman, Sarah S; Fox, Ashley A; Kolb, Stephen J SJ; Beckman, Joseph J; Franco, Maria Clara MC; Meyer, Kathrin K

Publication Date: 2022-10-10

Variant appearance in text: SOD1: D125G

PubMed Link: 36213964

Variant Present in the following documents:

• Main text
• GLIA-71-350.pdf

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Neurotoxic Astrocytes Directly Converted from Sporadic and Familial ALS Patient Fibroblasts Reveal Signature Diversities and miR-146a Theragnostic Potential in Specific Subtypes.

Cells

Gomes, Cátia C; Sequeira, Catarina C; Likhite, Shibi S; Dennys, Cassandra N CN; Kolb, Stephen J SJ; Shaw, Pamela J PJ; Vaz, Ana R AR; Kaspar, Brian K BK; Meyer, Kathrin K; Brites, Dora D

Publication Date: 2022-04-01

Variant appearance in text: SOD1: 374A>G

PubMed Link: 35406750

Variant Present in the following documents:

• cells-11-01186.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SOD1: D125G

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 6
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 5
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 4
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype.

Frontiers In Genetics

Wen, Xinmei X; Zhu, Wenjia W; Xia, Nan L NL; Li, Qianwen Q; Di, Li L; Zhang, Shu S; Chen, Hai H; Lu, Yan Y; Wang, Min M; Xu, Min M; Wang, Suobin S; Shen, Xin-Ming XM; Lu, Jie J; Da, Yuwei Y

Publication Date: 2021

Variant appearance in text: SOD1: D125G

PubMed Link: 34868265

Variant Present in the following documents:

• Main text
• fgene-12-776831.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: ALS1: D125G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SOD1: D125G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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