Publications:

---

De novo mutations in SOD1 are a cause of ALS.

Journal Of Neurology, Neurosurgery, And Psychiatry

Müller, Kathrin K; Oh, Ki-Wook KW; Nordin, Angelica A; Panthi, Sudhan S; Kim, Seung Hyun SH; Nordin, Frida F; Freischmidt, Axel A; Ludolph, Albert C AC; Ki, Chang Seok CS; Forsberg, Karin K; Weishaupt, Jochen J; Kim, Young-Eun YE; Andersen, Peter Munch PM

Publication Date: 2022-02

Variant appearance in text: PC: D101N

PubMed Link: 34518333

Variant Present in the following documents:

• jnnp-2021-327520.pdf

View BVdb publication page

---

De novo mutations in SOD1 are a cause of ALS.

Journal Of Neurology, Neurosurgery, And Psychiatry

Müller, Kathrin K; Oh, Ki-Wook KW; Nordin, Angelica A; Panthi, Sudhan S; Kim, Seung Hyun SH; Nordin, Frida F; Freischmidt, Axel A; Ludolph, Albert C AC; Ki, Chang Seok CS; Forsberg, Karin K; Weishaupt, Jochen J; Kim, Young-Eun YE; Andersen, Peter Munch PM

Publication Date: 2021-09-13

Variant appearance in text: PC: D101N

PubMed Link: 34518333

Variant Present in the following documents:

• jnnp-2021-327520.pdf

View BVdb publication page

---

A 500-year tale of co-evolution, adaptation, and virulence: Helicobacter pylori in the Americas.

The Isme Journal

Muñoz-Ramirez, Zilia Y ZY; Pascoe, Ben B; Mendez-Tenorio, Alfonso A; Mourkas, Evangelos E; Sandoval-Motta, Santiago S; Perez-Perez, Guillermo G; Morgan, Douglas R DR; Dominguez, Ricardo Leonel RL; Ortiz-Princz, Diana D; Cavazza, Maria Eugenia ME; Rocha, Gifone G; Queiroz, Dulcienne M M DMM; Catalano, Mariana M; Palma, Gerardo Zerbetto De GZ; Goldman, Cinthia G CG; Venegas, Alejandro A; Alarcon, Teresa T; Oleastro, Monica M; Vale, Filipa F FF; Goodman, Karen J KJ; Torres, Roberto C RC; Berthenet, Elvire E; Hitchings, Matthew D MD; Blaser, Martin J MJ; Sheppard, Samuel K SK; Thorell, Kaisa K; Torres, Javier J

Publication Date: 2021-01

Variant appearance in text: PC: D101N

PubMed Link: 32879462

Variant Present in the following documents:

• Main text
• 41396_2020_Article_758.pdf

View BVdb publication page

---

The Structure and Function of Acylglycerophosphate Acyltransferase 4/ Lysophosphatidic Acid Acyltransferase Delta (AGPAT4/LPAATδ).

Frontiers In Cell And Developmental Biology

Zhukovsky, Mikhail A MA; Filograna, Angela A; Luini, Alberto A; Corda, Daniela D; Valente, Carmen C

Publication Date: 2019

Variant appearance in text: PC: D101N

PubMed Link: 31428612

Variant Present in the following documents:

• Main text
• fcell-07-00147.pdf

View BVdb publication page

---

Loss of charge mutations in solvent exposed Lys residues of superoxide dismutase 1 do not induce inclusion formation in cultured cell models.

Plos One

Crosby, Keith K; Crown, Anthony M AM; Roberts, Brittany L BL; Brown, Hilda H; Ayers, Jacob I JI; Borchelt, David R DR

Publication Date: 2018

Variant appearance in text: PC: D101N

PubMed Link: 30399166

Variant Present in the following documents:

• pone.0206751.pdf

View BVdb publication page

---

Molecular mechanisms underlying the impact of mutations in SOD1 on its conformational properties associated with amyotrophic lateral sclerosis as revealed with molecular modelling.

Bmc Structural Biology

Alemasov, Nikolay A NA; Ivanisenko, Nikita V NV; Ramachandran, Srinivasan S; Ivanisenko, Vladimir A VA

Publication Date: 2018-02-05

Variant appearance in text: PC: D101N

PubMed Link: 29431095

Variant Present in the following documents:

• 12900_2018_Article_80.pdf

View BVdb publication page

---

Conformational specificity of the C4F6 SOD1 antibody; low frequency of reactivity in sporadic ALS cases.

Acta Neuropathologica Communications

Ayers, Jacob I JI; Xu, Guilian G; Pletnikova, Olga O; Troncoso, Juan C JC; Hart, P John PJ; Borchelt, David R DR

Publication Date: 2014-05-14

Variant appearance in text: PC: D101N

PubMed Link: 24887207

Variant Present in the following documents:

• 40478_2014_Article_128.pdf

View BVdb publication page

---

Structural similarity of wild-type and ALS-mutant superoxide dismutase-1 fibrils using limited proteolysis and atomic force microscopy.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Chan, Pik K PK; Chattopadhyay, Madhuri M; Sharma, Shivani S; Souda, Puneet P; Gralla, Edith Butler EB; Borchelt, David R DR; Whitelegge, Julian P JP; Valentine, Joan Selverstone JS

Publication Date: 2013-07-02

Variant appearance in text: PC: D101N

PubMed Link: 23781106

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states.

Molecular Neurodegeneration

Prudencio, Mercedes M; Borchelt, David R DR

Publication Date: 2011-11-17

Variant appearance in text: PC: D101N

PubMed Link: 22094223

Variant Present in the following documents:

• 1750-1326-6-77.pdf

View BVdb publication page

---

Initiation and elongation in fibrillation of ALS-linked superoxide dismutase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Chattopadhyay, Madhuri M; Durazo, Armando A; Sohn, Se Hui SH; Strong, Cynthia D CD; Gralla, Edith B EB; Whitelegge, Julian P JP; Valentine, Joan Selverstone JS

Publication Date: 2008-12-02

Variant appearance in text: PC: D101N

PubMed Link: 19022905

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.

Plos Biology

Wang, Qi Q; Johnson, Joshua L JL; Agar, Nathalie Y R NY; Agar, Jeffrey N JN

Publication Date: 2008-07-29

Variant appearance in text: PC: D101N

PubMed Link: 18666828

Variant Present in the following documents:

• pbio.0060170.pdf

View BVdb publication page

---