Publications:

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Gerstmann-Sträussler-Scheinker Disease with F198S Mutation Induces Independent Tau and Prion Protein Pathologies in Bank Voles.

Biomolecules

Bruno, Rosalia R; Pirisinu, Laura L; Riccardi, Geraldina G; D'Agostino, Claudia C; De Cecco, Elena E; Legname, Giuseppe G; Cardone, Franco F; Gambetti, Pierluigi P; Nonno, Romolo R; Agrimi, Umberto U; Di Bari, Michele Angelo MA

Publication Date: 2022-10-21

Variant appearance in text: CJD: F198S

PubMed Link: 36291746

Variant Present in the following documents:

• Main text
• biomolecules-12-01537.pdf

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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

Publication Date: 2022-09-06

Variant appearance in text: CJD: F198S

PubMed Link: 36092583

Variant Present in the following documents:

• Main text
• ao2c03523.pdf

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Cryo-EM structures of prion protein filaments from Gerstmann-Sträussler-Scheinker disease.

Acta Neuropathologica

Hallinan, Grace I GI; Ozcan, Kadir A KA; Hoq, Md Rejaul MR; Cracco, Laura L; Vago, Frank S FS; Bharath, Sakshibeedu R SR; Li, Daoyi D; Jacobsen, Max M; Doud, Emma H EH; Mosley, Amber L AL; Fernandez, Anllely A; Garringer, Holly J HJ; Jiang, Wen W; Ghetti, Bernardino B; Vidal, Ruben R

Publication Date: 2022-09

Variant appearance in text: PRNP: F198S

PubMed Link: 35819518

Variant Present in the following documents:

• Main text
• 401_2022_Article_2461.pdf
• 401_2022_2461_MOESM1_ESM.pdf

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Ultrastructural and biochemical classification of pathogenic tau, α-synuclein and TDP-43.

Acta Neuropathologica

Tarutani, Airi A; Adachi, Tadashi T; Akatsu, Hiroyasu H; Hashizume, Yoshio Y; Hasegawa, Kazuko K; Saito, Yuko Y; Robinson, Andrew C AC; Mann, David M A DMA; Yoshida, Mari M; Murayama, Shigeo S; Hasegawa, Masato M

Publication Date: 2022-06

Variant appearance in text: PRNP: F198S

PubMed Link: 35513543

Variant Present in the following documents:

• Main text
• 401_2022_Article_2426.pdf

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Prion-like strain effects in tauopathies.

Cell And Tissue Research

Han, Zhuang Zhuang ZZ; Kang, Sang-Gyun SG; Arce, Luis L; Westaway, David D

Publication Date: 2022-04-23

Variant appearance in text: PRNP: F198S

PubMed Link: 35460367

Variant Present in the following documents:

• Main text
• 441_2022_Article_3620.pdf

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Dissecting the clinical heterogeneity of early-onset Alzheimer's disease.

Molecular Psychiatry

Sirkis, Daniel W DW; Bonham, Luke W LW; Johnson, Taylor P TP; La Joie, Renaud R; Yokoyama, Jennifer S JS

Publication Date: 2022-06

Variant appearance in text: PRNP: F198S

PubMed Link: 35393555

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1531.pdf

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Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.

Journal Of Neurology

Eraña, Hasier H; San Millán, Beatriz B; Díaz-Domínguez, Carlos M CM; Charco, Jorge M JM; Rodríguez, Rosa R; Viéitez, Irene I; Pereda, Arrate A; Yañez, Rosa R; Geijo, Mariví M; Navarro, Carmen C; Perez de Nanclares, Guiomar G; Teijeira, Susana S; Castilla, Joaquín J

Publication Date: 2022-08

Variant appearance in text: CJD: F198S

PubMed Link: 35294616

Variant Present in the following documents:

• 415_2022_Article_11051.pdf

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THαβ Immunological Pathway as Protective Immune Response against Prion Diseases: An Insight for Prion Infection Therapy.

Viruses

Tsou, Adam A; Chen, Po-Jui PJ; Tsai, Kuo-Wang KW; Hu, Wan-Chung WC; Lu, Kuo-Cheng KC

Publication Date: 2022-02-17

Variant appearance in text: PRNP: F198S

PubMed Link: 35216001

Variant Present in the following documents:

• Main text
• viruses-14-00408.pdf

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Differential Accumulation of Misfolded Prion Strains in Natural Hosts of Prion Diseases.

Viruses

Lambert, Zoe J ZJ; Greenlee, Justin J JJ; Cassmann, Eric D ED; West Greenlee, M Heather MH

Publication Date: 2021-12-07

Variant appearance in text: PRNP: F198S

PubMed Link: 34960722

Variant Present in the following documents:

• Main text

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Extracellular Prion Protein Aggregates in Nine Gerstmann-Sträussler-Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data.

International Journal Of Molecular Sciences

Jankovska, Nikol N; Matej, Radoslav R; Olejar, Tomas T

Publication Date: 2021-12-10

Variant appearance in text: PRNP: F198S

PubMed Link: 34948096

Variant Present in the following documents:

• ijms-22-13303.pdf

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Extracellular Prion Protein Aggregates in Nine Gerstmann-Sträussler-Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data.

International Journal Of Molecular Sciences

Jankovska, Nikol N; Matej, Radoslav R; Olejar, Tomas T

Publication Date: 2021-12-10

Variant appearance in text: PRNP: F198S

PubMed Link: 34948096

Variant Present in the following documents:

• ijms-22-13303.pdf

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The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt-Jakob Disease.

Cells

Kim, Yong-Chan YC; Jeong, Byung-Hoon BH

Publication Date: 2021-11-11

Variant appearance in text: PRNP: F198S

PubMed Link: 34831353

Variant Present in the following documents:

• Main text
• cells-10-03132.pdf

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Parkinson's Disease: A Prionopathy?

International Journal Of Molecular Sciences

Vascellari, Sarah S; Manzin, Aldo A

Publication Date: 2021-07-27

Variant appearance in text: PRNP: F198S

PubMed Link: 34360787

Variant Present in the following documents:

• Main text
• ijms-22-08022.pdf

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Structure of Tau filaments in Prion protein amyloidoses.

Acta Neuropathologica

Hallinan, Grace I GI; Hoq, Md Rejaul MR; Ghosh, Manali M; Vago, Frank S FS; Fernandez, Anllely A; Garringer, Holly J HJ; Vidal, Ruben R; Jiang, Wen W; Ghetti, Bernardino B

Publication Date: 2021-08

Variant appearance in text: PRNP: F198S

PubMed Link: 34128081

Variant Present in the following documents:

• Main text
• 401_2021_2336_MOESM1_ESM.pdf

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Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases.

Scientific Reports

Mok, Tze How TH; Nihat, Akin A; Luk, Connie C; Sequeira, Danielle D; Batchelor, Mark M; Mead, Simon S; Collinge, John J; Jackson, Graham S GS

Publication Date: 2021-03-04

Variant appearance in text: PRNP: F198S

PubMed Link: 33664355

Variant Present in the following documents:

• Main text
• 41598_2021_Article_84527.pdf

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Tauopathy and Movement Disorders-Unveiling the Chameleons and Mimics.

Frontiers In Neurology

Ganguly, Jacky J; Jog, Mandar M

Publication Date: 2020

Variant appearance in text: PRNP: F198S

PubMed Link: 33250855

Variant Present in the following documents:

• fneur-11-599384.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: PRNP: F198S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PRNP: 593T>C; Phe198Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells

Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2020-06-17

Variant appearance in text: PRNP: F198S

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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Prion protein post-translational modifications modulate heparan sulfate binding and limit aggregate size in prion disease.

Neurobiology Of Disease

Callender, Julia A JA; Sevillano, Alejandro M AM; Soldau, Katrin K; Kurt, Timothy D TD; Schumann, Taylor T; Pizzo, Donald P DP; Altmeppen, Hermann H; Glatzel, Markus M; Esko, Jeffrey D JD; Sigurdson, Christina J CJ

Publication Date: 2020-08

Variant appearance in text: CJD: F198S

PubMed Link: 32454127

Variant Present in the following documents:

• Main text

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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

Publication Date: 2020-05

Variant appearance in text: CJD: F198S

PubMed Link: 32284600

Variant Present in the following documents:

• nihms-1569853.pdf

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RT-QuIC Assays in Humans … and Animals.

Food Safety (Tokyo, Japan)

Collins, Steven S; Sarros, Shannon S

Publication Date: 2016-12

Variant appearance in text: CJD: F198S

PubMed Link: 32231915

Variant Present in the following documents:

• Main text

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Prion protein glycans reduce intracerebral fibril formation and spongiosis in prion disease.

The Journal Of Clinical Investigation

Sevillano, Alejandro M AM; Aguilar-Calvo, Patricia P; Kurt, Timothy D TD; Lawrence, Jessica A JA; Soldau, Katrin K; Nam, Thu H TH; Schumann, Taylor T; Pizzo, Donald P DP; Nyström, Sofie S; Choudhury, Biswa B; Altmeppen, Hermann H; Esko, Jeffrey D JD; Glatzel, Markus M; Nilsson, K Peter R KPR; Sigurdson, Christina J CJ

Publication Date: 2020-03-02

Variant appearance in text: CJD: F198S

PubMed Link: 31985492

Variant Present in the following documents:

• Main text

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A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy.

Journal Of Clinical Movement Disorders

Ufkes, Nicole A NA; Woodard, Craig C; Dale, Marian L ML

Publication Date: 2019

Variant appearance in text: PRNP: F198S

PubMed Link: 31890235

Variant Present in the following documents:

• Main text
• 40734_2019_Article_82.pdf

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Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.

Acta Neuropathologica

Aguilar-Calvo, Patricia P; Sevillano, Alejandro M AM; Bapat, Jaidev J; Soldau, Katrin K; Sandoval, Daniel R DR; Altmeppen, Hermann C HC; Linsenmeier, Luise L; Pizzo, Donald P DP; Geschwind, Michael D MD; Sanchez, Henry H; Appleby, Brian S BS; Cohen, Mark L ML; Safar, Jiri G JG; Edland, Steven D SD; Glatzel, Markus M; Nilsson, K Peter R KPR; Esko, Jeffrey D JD; Sigurdson, Christina J CJ

Publication Date: 2020-03

Variant appearance in text: CJD: F198S

PubMed Link: 31673874

Variant Present in the following documents:

• Main text

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Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.

Frontiers In Genetics

Schwartz, Mathias M; Brandel, Jean-Philippe JP; Babonneau, Marie Lise ML; Boucher, Christilla C; Schaerer, Elodie E; Haik, Stephane S; Laplanche, Jean Louis JL; Gargiulo, Marcela M; Durr, Alexandra A

Publication Date: 2019

Variant appearance in text: CJD: F198S

PubMed Link: 31616476

Variant Present in the following documents:

• fgene-10-00895.pdf

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Transition of the prion protein from a structured cellular form (PrPC ) to the infectious scrapie agent (PrPSc ).

Protein Science : A Publication Of The Protein Society

Baral, Pravas K PK; Yin, Jiang J; Aguzzi, Adriano A; James, Michael N G MNG

Publication Date: 2019-12

Variant appearance in text: PRNP: F198S

PubMed Link: 31583788

Variant Present in the following documents:

• Main text

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Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

International Journal Of Molecular Sciences

Bernardi, Livia L; Bruni, Amalia C AC

Publication Date: 2019-07-23

Variant appearance in text: CJD: Phe198Ser

PubMed Link: 31340582

Variant Present in the following documents:

• Main text
• ijms-20-03606.pdf

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Gerstmann-Sträussler-Scheinker disease revisited: accumulation of covalently-linked multimers of internal prion protein fragments.

Acta Neuropathologica Communications

Cracco, Laura L; Xiao, Xiangzhu X; Nemani, Satish K SK; Lavrich, Jody J; Cali, Ignazio I; Ghetti, Bernardino B; Notari, Silvio S; Surewicz, Witold K WK; Gambetti, Pierluigi P

Publication Date: 2019-05-29

Variant appearance in text: CJD: F198S

PubMed Link: 31142381

Variant Present in the following documents:

• Main text
• 40478_2019_Article_734.pdf

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Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.

Viruses

Rossi, Marcello M; Baiardi, Simone S; Parchi, Piero P

Publication Date: 2019-03-29

Variant appearance in text: CJD: F198S

PubMed Link: 30934971

Variant Present in the following documents:

• Main text

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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: F198S

PubMed Link: 30877692

Variant Present in the following documents:

• Main text

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Structural features distinguishing infectious ex vivo mammalian prions from non-infectious fibrillar assemblies generated in vitro.

Scientific Reports

Terry, Cassandra C; Harniman, Robert L RL; Sells, Jessica J; Wenborn, Adam A; Joiner, Susan S; Saibil, Helen R HR; Miles, Mervyn J MJ; Collinge, John J; Wadsworth, Jonathan D F JDF

Publication Date: 2019-01-23

Variant appearance in text: PRNP: F198S

PubMed Link: 30675000

Variant Present in the following documents:

• 41598_2018_Article_36700.pdf

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Infectious Disease Transmission in Solid Organ Transplantation: Donor Evaluation, Recipient Risk, and Outcomes of Transmission.

Transplantation Direct

White, Sarah L SL; Rawlinson, William W; Boan, Peter P; Sheppeard, Vicky V; Wong, Germaine G; Waller, Karen K; Opdam, Helen H; Kaldor, John J; Fink, Michael M; Verran, Deborah D; Webster, Angela A; Wyburn, Kate K; Grayson, Lindsay L; Glanville, Allan A; Cross, Nick N; Irish, Ashley A; Coates, Toby T; Griffin, Anthony A; Snell, Greg G; Alexander, Stephen I SI; Campbell, Scott S; Chadban, Steven S; Macdonald, Peter P; Manley, Paul P; Mehakovic, Eva E; Ramachandran, Vidya V; Mitchell, Alicia A; Ison, Michael M

Publication Date: 2019-01

Variant appearance in text: PRNP: F198S

PubMed Link: 30656214

Variant Present in the following documents:

• txd-5-e416.pdf

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Recent advances in the histo-molecular pathology of human prion disease.

Brain Pathology (Zurich, Switzerland)

Baiardi, Simone S; Rossi, Marcello M; Capellari, Sabina S; Parchi, Piero P

Publication Date: 2019-03

Variant appearance in text: PRNP: F198S

PubMed Link: 30588685

Variant Present in the following documents:

• Main text

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Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [18F]Flortaucipir PET.

Acta Neuropathologica Communications

Risacher, Shannon L SL; Farlow, Martin R MR; Bateman, Daniel R DR; Epperson, Francine F; Tallman, Eileen F EF; Richardson, Rose R; Murrell, Jill R JR; Unverzagt, Frederick W FW; Apostolova, Liana G LG; Bonnin, Jose M JM; Ghetti, Bernardino B; Saykin, Andrew J AJ

Publication Date: 2018-10-29

Variant appearance in text: PRNP: F198S

PubMed Link: 30373672

Variant Present in the following documents:

• Main text

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An autopsy report of three kindred in a Gerstmann-Sträussler-Scheinker disease P105L family with a special reference to prion protein, tau, and beta-amyloid.

Brain And Behavior

Ishizawa, Keisuke K; Mitsufuji, Takashi T; Shioda, Kei K; Kobayashi, Atsushi A; Komori, Takashi T; Nakazato, Yoshihiko Y; Kitamoto, Tetsuyuki T; Araki, Nobuo N; Yamamoto, Toshimasa T; Sasaki, Atsushi A

Publication Date: 2018-10

Variant appearance in text: PRNP: F198S

PubMed Link: 30240140

Variant Present in the following documents:

• Main text

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Structural basis for the complete resistance of the human prion protein mutant G127V to prion disease.

Scientific Reports

Zheng, Zhen Z; Zhang, Meilan M; Wang, Yongheng Y; Ma, Rongsheng R; Guo, Chenyun C; Feng, Liubin L; Wu, Jihui J; Yao, Hongwei H; Lin, Donghai D

Publication Date: 2018-09-04

Variant appearance in text: CJD: F198S

PubMed Link: 30181558

Variant Present in the following documents:

• Main text

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Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: CJD: F198S

PubMed Link: 30147320

Variant Present in the following documents:

• Main text

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PrPres deposition in the retina is a common finding of sporadic, familial and iatrogenic Creutzfeldt-Jakob diseases (CJD).

Acta Neuropathologica Communications

Takao, Masaki M; Kimura, Hiroaki H; Kitamoto, Tetsuyuki T; Mihara, Ban B

Publication Date: 2018-08-10

Variant appearance in text: CJD: F198S

PubMed Link: 30097055

Variant Present in the following documents:

• Main text
• 40478_2018_Article_582.pdf

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A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.

Prion

Wang, Jing J; Xiao, Kang K; Zhou, Wei W; Gao, Chen C; Chen, Cao C; Shi, Qi Q; Dong, Xiao-Ping XP

Publication Date: 2018-03-04

Variant appearance in text: PRNP: F198S

PubMed Link: 29509064

Variant Present in the following documents:

• Main text

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Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein.

Acta Neuropathologica Communications

Race, Brent B; Williams, Katie K; Hughson, Andrew G AG; Jansen, Casper C; Parchi, Piero P; Rozemuller, Annemieke J M AJM; Chesebro, Bruce B

Publication Date: 2018-02-20

Variant appearance in text: CJD: F198S

PubMed Link: 29458424

Variant Present in the following documents:

• Main text

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A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles.

Plos Pathogens

Mercer, Robert C C RCC; Daude, Nathalie N; Dorosh, Lyudmyla L; Fu, Ze-Lin ZL; Mays, Charles E CE; Gapeshina, Hristina H; Wohlgemuth, Serene L SL; Acevedo-Morantes, Claudia Y CY; Yang, Jing J; Cashman, Neil R NR; Coulthart, Michael B MB; Pearson, Dawn M DM; Joseph, Jeffrey T JT; Wille, Holger H; Safar, Jiri G JG; Jansen, Gerard H GH; Stepanova, Maria M; Sykes, Brian D BD; Westaway, David D

Publication Date: 2018-01

Variant appearance in text: PRNP: F198S

PubMed Link: 29338055

Variant Present in the following documents:

• Main text
• ppat.1006826.pdf

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Translational Research in Alzheimer's and Prion Diseases.

Journal Of Alzheimer'S Disease : Jad

Di Fede, Giuseppe G; Giaccone, Giorgio G; Salmona, Mario M; Tagliavini, Fabrizio F

Publication Date: 2018

Variant appearance in text: PRNP: F198S

PubMed Link: 29172000

Variant Present in the following documents:

• Main text
• jad-62-jad170770.pdf

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Generation of a new infectious recombinant prion: a model to understand Gerstmann-Sträussler-Scheinker syndrome.

Scientific Reports

Elezgarai, Saioa R SR; Fernández-Borges, Natalia N; Eraña, Hasier H; Sevillano, Alejandro M AM; Charco, Jorge M JM; Harrathi, Chafik C; Saá, Paula P; Gil, David D; Kong, Qingzhong Q; Requena, Jesús R JR; Andréoletti, Olivier O; Castilla, Joaquín J

Publication Date: 2017-08-29

Variant appearance in text: PRNP: F198S

PubMed Link: 28851967

Variant Present in the following documents:

• Main text

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Genetic PrP Prion Diseases.

Cold Spring Harbor Perspectives In Biology

Kim, Mee-Ohk MO; Takada, Leonel T LT; Wong, Katherine K; Forner, Sven A SA; Geschwind, Michael D MD

Publication Date: 2018-05-01

Variant appearance in text: CJD: F198S

PubMed Link: 28778873

Variant Present in the following documents:

• Main text

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