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: PRNP: Q217R

PubMed Link: 36291746

Variant Present in the following documents:

• Main text
• biomolecules-12-01537.pdf

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Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.

Frontiers In Aging Neuroscience

Chen, Zhongyun Z; Ma, Jinghong J; Liu, Li L; Liu, Shuying S; Zhang, Jing J; Chu, Min M; Wang, Zhen Z; Chan, Piu P; Wu, Liyong L

Publication Date: 2022

Variant appearance in text: PRNP: Q217R

PubMed Link: 35493933

Variant Present in the following documents:

• fnagi-14-830602.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: Q217R

PubMed Link: 35216001

Variant Present in the following documents:

• Main text
• viruses-14-00408.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: Q217R

PubMed Link: 34360787

Variant Present in the following documents:

• Main text
• ijms-22-08022.pdf

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On the role of the cellular prion protein in the uptake and signaling of pathological aggregates in neurodegenerative diseases.

Prion

Legname, Giuseppe G; Scialò, Carlo C

Publication Date: 2020-12

Variant appearance in text: PRNP: Q217R

PubMed Link: 33345731

Variant Present in the following documents:

• KPRN_14_1854034.pdf

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Cellular Prion Protein (PrPc): Putative Interacting Partners and Consequences of the Interaction.

International Journal Of Molecular Sciences

Miranzadeh Mahabadi, Hajar H; Taghibiglou, Changiz C

Publication Date: 2020-09-25

Variant appearance in text: PRNP: Q217R

PubMed Link: 32992764

Variant Present in the following documents:

• Main text
• ijms-21-07058.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: Q217R

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: 650A>G; Gln217Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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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: CJD: Q217R

PubMed Link: 32728168

Variant Present in the following documents:

• Main text
• 42003_2020_1126_MOESM5_ESM.pdf

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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: Q217R

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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Movement Disorders in Prionopathies: A Systematic Review.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Rodriguez-Porcel, Federico F; Ciarlariello, Vinícius Boaratti VB; Dwivedi, Alok K AK; Lovera, Lilia L; Da Prat, Gustavo G; Lopez-Castellanos, Ricardo R; Suri, Ritika R; Laub, Holly H; Walker, Ruth H RH; Barsottini, Orlando O; Pedroso, José Luiz JL; Espay, Alberto J AJ

Publication Date: 2019

Variant appearance in text: PRNP: Q217R

PubMed Link: 31871824

Variant Present in the following documents:

• Main text
• tre-09-712.pdf

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Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.

Clinical Interventions In Aging

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

Publication Date: 2019

Variant appearance in text: PRNP: Gln217Arg

PubMed Link: 31447551

Variant Present in the following documents:

• Main text
• cia-14-1387.pdf

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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: Gln217Arg

PubMed Link: 31340582

Variant Present in the following documents:

• Main text
• ijms-20-03606.pdf

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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: Q217R

PubMed Link: 30877692

Variant Present in the following documents:

• Main text

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Gerstmann-Sträussler-Scheinker disease: A case report.

World Journal Of Clinical Cases

Zhao, Ming-Ming MM; Feng, Liang-Shu LS; Hou, Shuai S; Shen, Ping-Ping PP; Cui, Li L; Feng, Jia-Chun JC

Publication Date: 2019-02-06

Variant appearance in text: PRNP: Q217R

PubMed Link: 30746381

Variant Present in the following documents:

• Main text
• WJCC-7-389.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: Q217R

PubMed Link: 30656214

Variant Present in the following documents:

• txd-5-e416.pdf

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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: Q217R

PubMed Link: 30240140

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: Q217R

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.pdf

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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: CJD: Q217R

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: Q217R

PubMed Link: 29172000

Variant Present in the following documents:

• Main text
• jad-62-jad170770.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PRNP: 650A>G; Gln217Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.

Molecular Neurobiology

Matamoros-Angles, Andreu A; Gayosso, Lucía Mayela LM; Richaud-Patin, Yvonne Y; di Domenico, Angelique A; Vergara, Cristina C; Hervera, Arnau A; Sousa, Amaya A; Fernández-Borges, Natalia N; Consiglio, Antonella A; Gavín, Rosalina R; López de Maturana, Rakel R; Ferrer, Isidro I; López de Munain, Adolfo A; Raya, Ángel Á; Castilla, Joaquín J; Sánchez-Pernaute, Rosario R; Del Río, José Antonio JA

Publication Date: 2018-04

Variant appearance in text: PRNP: Q217R

PubMed Link: 28466265

Variant Present in the following documents:

• Main text
• 12035_2017_Article_506.pdf

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A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.

Neurosciences (Riyadh, Saudi Arabia)

Long, Ling L; Cai, Xiaodong X; Shu, Yaqing Y; Lu, Zhengqi Z

Publication Date: 2017-04

Variant appearance in text: PRNP: Q217R

PubMed Link: 28416787

Variant Present in the following documents:

• Main text

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Transmissibility of Gerstmann-Sträussler-Scheinker syndrome in rodent models: New insights into the molecular underpinnings of prion infectivity.

Prion

Nonno, Romolo R; Angelo Di Bari, Michele M; Agrimi, Umberto U; Pirisinu, Laura L

Publication Date: 2016-11

Variant appearance in text: PRNP: Q217R

PubMed Link: 27892798

Variant Present in the following documents:

• Main text
• kprn-10-06-1239686.pdf

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Phosphorylated human tau associates with mouse prion protein amyloid in scrapie-infected mice but does not increase progression of clinical disease.

Prion

Race, Brent B; Phillips, Katie K; Kraus, Allison A; Chesebro, Bruce B

Publication Date: 2016-07-03

Variant appearance in text: CJD: Q217R

PubMed Link: 27463540

Variant Present in the following documents:

• Main text

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Prion protein scrapie and the normal cellular prion protein.

Prion

Atkinson, Caroline J CJ; Zhang, Kai K; Munn, Alan L AL; Wiegmans, Adrian A; Wei, Ming Q MQ

Publication Date: 2016

Variant appearance in text: PRNP: Q217R

PubMed Link: 26645475

Variant Present in the following documents:

• Main text

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Prion Diseases.

Continuum (Minneapolis, Minn.)

Geschwind, Michael D MD

Publication Date: 2015-12

Variant appearance in text: PRNP: Q217R

PubMed Link: 26633779

Variant Present in the following documents:

• Main text

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Prion Disease Induces Alzheimer Disease-Like Neuropathologic Changes.

Journal Of Neuropathology And Experimental Neurology

Tousseyn, Thomas T; Bajsarowicz, Krystyna K; Sánchez, Henry H; Gheyara, Ania A; Oehler, Abby A; Geschwind, Michael M; DeArmond, Bernadette B; DeArmond, Stephen J SJ

Publication Date: 2015-09

Variant appearance in text: CJD: Q217R

PubMed Link: 26226132

Variant Present in the following documents:

• Main text

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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: PRNP: Q217R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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The structure of human prions: from biology to structural models-considerations and pitfalls.

Viruses

Acevedo-Morantes, Claudia Y CY; Wille, Holger H

Publication Date: 2014-10-20

Variant appearance in text: CJD: Q217R

PubMed Link: 25333467

Variant Present in the following documents:

• Main text
• viruses-06-03875.pdf

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Small-molecule theranostic probes: a promising future in neurodegenerative diseases.

International Journal Of Cell Biology

Aulić, Suzana S; Bolognesi, Maria Laura ML; Legname, Giuseppe G

Publication Date: 2013

Variant appearance in text: PRNP: Q217R

PubMed Link: 24324497

Variant Present in the following documents:

• Main text

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The role of crowded physiological environments in prion and prion-like protein aggregation.

International Journal Of Molecular Sciences

Ma, Qian Q; Hu, Ji-Ying JY; Chen, Jie J; Liang, Yi Y

Publication Date: 2013-10-25

Variant appearance in text: CJD: Q217R

PubMed Link: 24284393

Variant Present in the following documents:

• Main text
• ijms-14-21339.pdf

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Discriminant analysis of prion sequences for prediction of susceptibility.

Experimental & Molecular Medicine

Lee, Ji-Hae JH; Bae, Se-Eun SE; Jung, Sunghoon S; Ahn, Insung I; Son, Hyeon Seok HS

Publication Date: 2013-10-11

Variant appearance in text: CJD: Q217R

PubMed Link: 24113272

Variant Present in the following documents:

• Main text

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Prion disease: a tale of folds and strains.

Brain Pathology (Zurich, Switzerland)

Kretzschmar, Hans H; Tatzelt, Jörg J

Publication Date: 2013-05

Variant appearance in text: PRNP: Q217R

PubMed Link: 23587138

Variant Present in the following documents:

• Main text

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Sporadic Creutzfeldt-Jakob disease subtype-specific alterations of the brain proteome: impact on Rab3a recycling.

Proteomics

Gawinecka, Joanna J; Cardone, Franco F; Asif, Abdul R AR; De Pascalis, Angela A; Wemheuer, Wiebke M WM; Schulz-Schaeffer, Walter J WJ; Pocchiari, Maurizio M; Zerr, Inga I

Publication Date: 2012-12

Variant appearance in text: CJD: Q217R

PubMed Link: 23070823

Variant Present in the following documents:

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Role of prion protein aggregation in neurotoxicity.

International Journal Of Molecular Sciences

Corsaro, Alessandro A; Thellung, Stefano S; Villa, Valentina V; Nizzari, Mario M; Florio, Tullio T

Publication Date: 2012

Variant appearance in text: CJD: Q217R

PubMed Link: 22942726

Variant Present in the following documents:

• Main text

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Role of prion protein aggregation in neurotoxicity.

International Journal Of Molecular Sciences

Corsaro, Alessandro A; Thellung, Stefano S; Villa, Valentina V; Nizzari, Mario M; Florio, Tullio T

Publication Date: 2012

Variant appearance in text: CJD: Q217R

PubMed Link: 22942726

Variant Present in the following documents:

• Main text

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An overview of human prion diseases.

Virology Journal

Imran, Muhammad M; Mahmood, Saqib S

Publication Date: 2011-12-24

Variant appearance in text: PRNP: Q217R

PubMed Link: 22196171

Variant Present in the following documents:

• Main text
• 1743-422X-8-559.pdf

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Squirrel monkeys (Saimiri sciureus) infected with the agent of bovine spongiform encephalopathy develop tau pathology.

Journal Of Comparative Pathology

Piccardo, P P; Cervenak, J J; Yakovleva, O O; Gregori, L L; Pomeroy, K K; Cook, A A; Muhammad, F S FS; Seuberlich, T T; Cervenakova, L L; Asher, D M DM

Publication Date: 2012-07

Variant appearance in text: PRNP: Q217R

PubMed Link: 22018806

Variant Present in the following documents:

• Main text

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Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.

Annals Of Neurology

Jayadev, Suman S; Nochlin, David D; Poorkaj, Parvoneh P; Steinbart, Ellen J EJ; Mastrianni, James A JA; Montine, Thomas J TJ; Ghetti, Bernardino B; Schellenberg, Gerard D GD; Bird, Thomas D TD; Leverenz, James B JB

Publication Date: 2011-04

Variant appearance in text: CJD: Q217R

PubMed Link: 21416485

Variant Present in the following documents:

• Main text

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Prion protein misfolding affects calcium homeostasis and sensitizes cells to endoplasmic reticulum stress.

Plos One

Torres, Mauricio M; Castillo, Karen K; Armisén, Ricardo R; Stutzin, Andrés A; Soto, Claudio C; Hetz, Claudio C

Publication Date: 2010-12-29

Variant appearance in text: CJD: Q217R

PubMed Link: 21209925

Variant Present in the following documents:

• Main text

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Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

Acta Neuropathologica

Jansen, Casper C; Parchi, Piero P; Capellari, Sabina S; Vermeij, Ad J AJ; Corrado, Patrizia P; Baas, Frank F; Strammiello, Rosaria R; van Gool, Willem A WA; van Swieten, John C JC; Rozemuller, Annemieke J M AJ

Publication Date: 2010-02

Variant appearance in text: CJD: Q217R

PubMed Link: 19911184

Variant Present in the following documents:

• Main text

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De novo mammalian prion synthesis.

Prion

Benetti, Federico F; Legname, Giuseppe G

Publication Date: 2009

Variant appearance in text: CJD: Q217R

PubMed Link: 19887900

Variant Present in the following documents:

• Main text

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Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.

Bioinformatics And Biology Insights

Kedarisetti, Kanaka Durga KD; Dick, Scott S; Kurgan, Lukasz L

Publication Date: 2008-03-12

Variant appearance in text: CJD: Q217R

PubMed Link: 19812771

Variant Present in the following documents:

• bbi-2008-133.pdf

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Loss of anti-Bax function in Gerstmann-Sträussler-Scheinker syndrome-associated prion protein mutants.

Plos One

Jodoin, Julie J; Misiewicz, Micheal M; Makhijani, Priya P; Giannopoulos, Paresa N PN; Hammond, Jennifer J; Goodyer, Cynthia G CG; LeBlanc, Andréa C AC

Publication Date: 2009-08-14

Variant appearance in text: CJD: Q217R

PubMed Link: 19680558

Variant Present in the following documents:

• Main text

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Prion proteins with pathogenic and protective mutations show similar structure and dynamics.

Biochemistry

Bae, Sung-Hun SH; Legname, Giuseppe G; Serban, Ana A; Prusiner, Stanley B SB; Wright, Peter E PE; Dyson, H Jane HJ

Publication Date: 2009-09-01

Variant appearance in text: CJD: Q217R

PubMed Link: 19618915

Variant Present in the following documents:

• Main text

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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: Q217R

PubMed Link: 19602567

Variant Present in the following documents:

• Main text

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Dynamics of a truncated prion protein, PrP(113-231), from (15)N NMR relaxation: order parameters calculated and slow conformational fluctuations localized to a distinct region.

Protein Science : A Publication Of The Protein Society

O'Sullivan, Denis B D DB; Jones, Christopher E CE; Abdelraheim, Salama R SR; Brazier, Marcus W MW; Toms, Harold H; Brown, David R DR; Viles, John H JH

Publication Date: 2009-02

Variant appearance in text: CJD: Q217R

PubMed Link: 19173221

Variant Present in the following documents:

• Main text

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Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms 'curly' intracellular aggregates.

Journal Of Molecular Neuroscience : Mn

Gu, Yaping Y; Verghese, Susamma S; Bose, Sharmila S; Mohan, Maradumane M; Singh, Neena N

Publication Date: 2007

Variant appearance in text: PRNP: Q217R

PubMed Link: 17873292

Variant Present in the following documents:

• Main text

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