Publications:

---

Structural effects of the highly protective V127 polymorphism on human prion protein.

Communications Biology

Hosszu, Laszlo L P LLP; Conners, Rebecca R; Sangar, Daljit D; Batchelor, Mark M; Sawyer, Elizabeth B EB; Fisher, Stuart S; Cliff, Matthew J MJ; Hounslow, Andrea M AM; McAuley, Katherine K; Leo Brady, R R; Jackson, Graham S GS; Bieschke, Jan J; Waltho, Jonathan P JP; Collinge, John J

Publication Date: 2020-07-29

Variant appearance in text: PRNP: S132I

PubMed Link: 32728168

Variant Present in the following documents:

• 42003_2020_1126_MOESM5_ESM.pdf

View BVdb publication page

---

Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease.

Journal Of Clinical Neurology (Seoul, Korea)

Wang, Jing J; Xiao, Kang K; Zhou, Wei W; Shi, Qi Q; Dong, Xiao Ping XP

Publication Date: 2019-04

Variant appearance in text: PRNP: S132I

PubMed Link: 30877692

Variant Present in the following documents:

• Main text
• jcn-15-184.pdf

View BVdb publication page

---

Impaired transmissibility of atypical prions from genetic CJDG114V.

Neurology. Genetics

Cali, Ignazio I; Mikhail, Fadi F; Qin, Kefeng K; Gregory, Crystal C; Solanki, Ani A; Martinez, Manuel Camacho MC; Zhao, Lili L; Appleby, Brian B; Gambetti, Pierluigi P; Norstrom, Eric E; Mastrianni, James A JA

Publication Date: 2018-08

Variant appearance in text: CJD: S132I

PubMed Link: 30109268

Variant Present in the following documents:

• Main text
• NG2018007617.pdf

View BVdb publication page

---

Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Molecules (Basel, Switzerland)

Giachin, Gabriele G; Biljan, Ivana I; Ilc, Gregor G; Plavec, Janez J; Legname, Giuseppe G

Publication Date: 2013-08-07

Variant appearance in text: PRNP: S132I

PubMed Link: 23966072

Variant Present in the following documents:

• molecules-18-09451.pdf

View BVdb publication page

---

Diverse effects on the native β-sheet of the human prion protein due to disease-associated mutations.

Biochemistry

Chen, Wei W; van der Kamp, Marc W MW; Daggett, Valerie V

Publication Date: 2010-11-16

Variant appearance in text: PRNP: S132I

PubMed Link: 20949975

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The consequences of pathogenic mutations to the human prion protein.

Protein Engineering, Design & Selection : Peds

van der Kamp, Marc W MW; Daggett, Valerie V

Publication Date: 2009-08

Variant appearance in text: CJD: S132I

PubMed Link: 19602567

Variant Present in the following documents:

• Main text

View BVdb publication page

---