Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: PRNP: G127V; rs267606980
Conformation-Dependent Influences of Hydrophobic Amino Acids in Two In-Register Parallel β-Sheet Amyloids, an α-Synuclein Amyloid and a Local Structural Model of PrPSc.
Acs Omega
Otaki, Hiroki H; Taguchi, Yuzuru Y; Nishida, Noriyuki N
Zn(II) binding causes interdomain changes in the structure and flexibility of the human prion protein.
Scientific Reports
Gielnik, Maciej M; Taube, Michał M; Zhukova, Lilia L; Zhukov, Igor I; Wärmländer, Sebastian K T S SKTS; Svedružić, Željko Ž; Kwiatek, Wojciech M WM; Gräslund, Astrid A; Kozak, Maciej M
Zn(II) binding causes interdomain changes in the structure and flexibility of the human prion protein.
Scientific Reports
Gielnik, Maciej M; Taube, Michał M; Zhukova, Lilia L; Zhukov, Igor I; Wärmländer, Sebastian K T S SKTS; Svedružić, Željko Ž; Kwiatek, Wojciech M WM; Gräslund, Astrid A; Kozak, Maciej M
Enhanced prime editing systems by manipulating cellular determinants of editing outcomes.
Cell
Chen, Peter J PJ; Hussmann, Jeffrey A JA; Yan, Jun J; Knipping, Friederike F; Ravisankar, Purnima P; Chen, Pin-Fang PF; Chen, Cidi C; Nelson, James W JW; Newby, Gregory A GA; Sahin, Mustafa M; Osborn, Mark J MJ; Weissman, Jonathan S JS; Adamson, Britt B; Liu, David R DR
Engineered pegRNAs improve prime editing efficiency.
Nature Biotechnology
Nelson, James W JW; Randolph, Peyton B PB; Shen, Simon P SP; Everette, Kelcee A KA; Chen, Peter J PJ; Anzalone, Andrew V AV; An, Meirui M; Newby, Gregory A GA; Chen, Jonathan C JC; Hsu, Alvin A; Liu, David R DR
One-Step Homology Mediated CRISPR-Cas Editing in Zygotes for Generating Genome Edited Cattle.
The Crispr Journal
Park, Ki-Eun KE; Frey, Juli Foster JF; Waters, Jerel J; Simpson, Sean G SG; Coutu, Chris C; Plummer, Sarah S; Campbell, Matthew M; Donovan, David M DM; Telugu, Bhanu P BP
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
Cryo-EM structure of a human prion fibril with a hydrophobic, protease-resistant core.
Nature Structural & Molecular Biology
Glynn, Calina C; Sawaya, Michael R MR; Ge, Peng P; Gallagher-Jones, Marcus M; Short, Connor W CW; Bowman, Ronquiajah R; Apostol, Marcin M; Zhou, Z Hong ZH; Eisenberg, David S DS; Rodriguez, Jose A JA
Search-and-replace genome editing without double-strand breaks or donor DNA.
Nature
Anzalone, Andrew V AV; Randolph, Peyton B PB; Davis, Jessie R JR; Sousa, Alexander A AA; Koblan, Luke W LW; Levy, Jonathan M JM; Chen, Peter J PJ; Wilson, Christopher C; Newby, Gregory A GA; Raguram, Aditya A; Liu, David R DR
Structural transitions in full-length human prion protein detected by xenon as probe and spin labeling of the N-terminal domain.
Scientific Reports
Narayanan, Sunilkumar Puthenpurackal SP; Nair, Divya Gopalakrishnan DG; Schaal, Daniel D; Barbosa de Aguiar, Marisa M; Wenzel, Sabine S; Kremer, Werner W; Schwarzinger, Stephan S; Kalbitzer, Hans Robert HR
Deer Prion Proteins Modulate the Emergence and Adaptation of Chronic Wasting Disease Strains.
Journal Of Virology
Duque Velásquez, Camilo C; Kim, Chiye C; Herbst, Allen A; Daude, Nathalie N; Garza, Maria Carmen MC; Wille, Holger H; Aiken, Judd J; McKenzie, Debbie D
A naturally occurring variant of the human prion protein completely prevents prion disease.
Nature
Asante, Emmanuel A EA; Smidak, Michelle M; Grimshaw, Andrew A; Houghton, Richard R; Tomlinson, Andrew A; Jeelani, Asif A; Jakubcova, Tatiana T; Hamdan, Shyma S; Richard-Londt, Angela A; Linehan, Jacqueline M JM; Brandner, Sebastian S; Alpers, Michael M; Whitfield, Jerome J; Mead, Simon S; Wadsworth, Jonathan D F JD; Collinge, John J