Publications:

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The Role of Cellular Prion Protein in Glioma Tumorigenesis Could Be through the Autophagic Mechanisms: A Narrative Review.

International Journal Of Molecular Sciences

Armocida, Daniele D; Busceti, Carla Letizia CL; Biagioni, Francesca F; Fornai, Francesco F; Frati, Alessandro A

Publication Date: 2023-01-11

Variant appearance in text: PRNP: Q212P

PubMed Link: 36674920

Variant Present in the following documents:

• Main text
• ijms-24-01405.pdf

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Prion Mutations in Republic of Republic of Korea, China, and Japan.

International Journal Of Molecular Sciences

Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-12-30

Variant appearance in text: CJD: Q212P

PubMed Link: 36614069

Variant Present in the following documents:

• Main text
• ijms-24-00625.pdf

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Detecting early stage structural changes in wild type, pathogenic and non-pathogenic prion variants using Markov state model.

Rsc Advances

Jani, Vinod V; Sonavane, Uddhavesh U; Joshi, Rajendra R

Publication Date: 2019-05-07

Variant appearance in text: CJD: Q212P

PubMed Link: 35519320

Variant Present in the following documents:

• Main text
• RA-009-C9RA01507H.pdf

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The PentUnFOLD algorithm as a tool to distinguish the dark and the light sides of the structural instability of proteins.

Amino Acids

Poboinev, Victor Vitoldovich VV; Khrustalev, Vladislav Victorovich VV; Khrustaleva, Tatyana Aleksandrovna TA; Kasko, Tihon Evgenyevich TE; Popkov, Vadim Dmitrievich VD

Publication Date: 2022-08

Variant appearance in text: CJD: Q212P

PubMed Link: 35294674

Variant Present in the following documents:

• Main text
• 726_2022_Article_3153.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: Q212P

PubMed Link: 34960722

Variant Present in the following documents:

• Main text

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Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.

Alzheimer'S Research & Therapy

Ximelis, Teresa T; Marín-Moreno, Alba A; Espinosa, Juan Carlos JC; Eraña, Hasier H; Charco, Jorge M JM; Hernández, Isabel I; Riveira, Carmen C; Alcolea, Daniel D; González-Roca, Eva E; Aldecoa, Iban I; Molina-Porcel, Laura L; Parchi, Piero P; Rossi, Marcello M; Castilla, Joaquín J; Ruiz-García, Raquel R; Gelpi, Ellen E; Torres, Juan María JM; Sánchez-Valle, Raquel R

Publication Date: 2021-10-18

Variant appearance in text: CJD: Q212P

PubMed Link: 34663460

Variant Present in the following documents:

• Main text
• 13195_2021_Article_912.pdf

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Identification of Two Early Folding Stage Prion Non-Local Contacts Suggested to Serve as Key Steps in Directing the Final Fold to Be Either Native or Pathogenic.

International Journal Of Molecular Sciences

Bergasa-Caceres, Fernando F; Rabitz, Herschel A HA

Publication Date: 2021-08-10

Variant appearance in text: CJD: Q212P

PubMed Link: 34445324

Variant Present in the following documents:

• Main text
• ijms-22-08619.pdf

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Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease.

Bmc Neurology

Hassan, Ahamad A; Campbell, Tracy T; Darwent, Lee L; Odd, Hans H; Green, Alison A; Collinge, John J; Mead, Simon S

Publication Date: 2021-06-28

Variant appearance in text: PRNP: Q212P

PubMed Link: 34182938

Variant Present in the following documents:

• Main text
• 12883_2021_Article_2274.pdf

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Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases.

Molecular Psychiatry

Thompson, Andrew G B AGB; Anastasiadis, Prodromos P; Druyeh, Ronald R; Whitworth, Ines I; Nayak, Annapurna A; Nihat, Akin A; Mok, Tze How TH; Rudge, Peter P; Wadsworth, Jonathan D F JDF; Rohrer, Jonathan J; Schott, Jonathan M JM; Heslegrave, Amanda A; Zetterberg, Henrik H; Collinge, John J; Jackson, Graham S GS; Mead, Simon S

Publication Date: 2021-03-05

Variant appearance in text: CJD: Q212P

PubMed Link: 33674752

Variant Present in the following documents:

• Main text
• 41380_2021_Article_1045.pdf

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Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases.

Molecular Psychiatry

Thompson, Andrew G B AGB; Anastasiadis, Prodromos P; Druyeh, Ronald R; Whitworth, Ines I; Nayak, Annapurna A; Nihat, Akin A; Mok, Tze How TH; Rudge, Peter P; Wadsworth, Jonathan D F JDF; Rohrer, Jonathan J; Schott, Jonathan M JM; Heslegrave, Amanda A; Zetterberg, Henrik H; Collinge, John J; Jackson, Graham S GS; Mead, Simon S

Publication Date: 2021-10

Variant appearance in text: CJD: Q212P

PubMed Link: 33674752

Variant Present in the following documents:

• Main text
• 41380_2021_Article_1045.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: Q212P

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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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: Q212P

PubMed Link: 32728168

Variant Present in the following documents:

• Main text
• 42003_2020_1126_MOESM5_ESM.pdf
• 42003_2020_Article_1126.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: Q212P

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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Using NMR spectroscopy to investigate the role played by copper in prion diseases.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Alsiary, Rawiah A RA; Alghrably, Mawadda M; Saoudi, Abdelhamid A; Al-Ghamdi, Suliman S; Jaremko, Lukasz L; Jaremko, Mariusz M; Emwas, Abdul-Hamid AH

Publication Date: 2020-09

Variant appearance in text: CJD: Q212P

PubMed Link: 32328835

Variant Present in the following documents:

• Main text
• 10072_2020_Article_4321.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: Q212P

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: CJD: Q212P

PubMed Link: 31447551

Variant Present in the following documents:

• cia-14-1387.pdf

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Structural Consequences of Copper Binding to the Prion Protein.

Cells

Salzano, Giulia G; Giachin, Gabriele G; Legname, Giuseppe G

Publication Date: 2019-07-25

Variant appearance in text: CJD: Q212P

PubMed Link: 31349611

Variant Present in the following documents:

• Main text
• cells-08-00770.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: Gln212Pro

PubMed Link: 31340582

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: Q212P

PubMed Link: 30877692

Variant Present in the following documents:

• Main text
• jcn-15-184.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: Q212P

PubMed Link: 30656214

Variant Present in the following documents:

• txd-5-e416.pdf

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Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Molecular Psychiatry

Koriath, C C; Kenny, J J; Adamson, G G; Druyeh, R R; Taylor, W W; Beck, J J; Quinn, L L; Mok, T H TH; Dimitriadis, A A; Norsworthy, P P; Bass, N N; Carter, J J; Walker, Z Z; Kipps, C C; Coulthard, E E; Polke, J M JM; Bernal-Quiros, M M; Denning, N N; Thomas, R R; Raybould, R R; Williams, J J; Mummery, C J CJ; Wild, E J EJ; Houlden, H H; Tabrizi, S J SJ; Rossor, M N MN; Hummerich, H H; Warren, J D JD; Rowe, J B JB; Rohrer, J D JD; Schott, J M JM; Fox, N C NC; Collinge, J J; Mead, S S

Publication Date: 2020-12

Variant appearance in text: PRNP: Gln212Pro

PubMed Link: 30279455

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: Q212P

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.pdf

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Interaction of Peptide Aptamers with Prion Protein Central Domain Promotes α-Cleavage of PrPC.

Molecular Neurobiology

Corda, Erica E; Du, Xiaotang X; Shim, Su Yeon SY; Klein, Antonia N AN; Siltberg-Liberles, Jessica J; Gilch, Sabine S

Publication Date: 2018-10

Variant appearance in text: CJD: Q212P

PubMed Link: 29460268

Variant Present in the following documents:

• 12035_2018_Article_944.pdf

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Prion Proteins Without the Glycophosphatidylinositol Anchor: Potential Biomarkers in Neurodegenerative Diseases.

Biomarker Insights

Kovač, Valerija V; Čurin Šerbec, Vladka V

Publication Date: 2018

Variant appearance in text: CJD: Q212P

PubMed Link: 29449775

Variant Present in the following documents:

• Main text

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The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature.

Plos One

Caine, Diana D; Nihat, Akin A; Crabb, Philippa P; Rudge, Peter P; Cipolotti, Lisa L; Collinge, John J; Mead, Simon S

Publication Date: 2018

Variant appearance in text: PRNP: Q212P

PubMed Link: 29304167

Variant Present in the following documents:

• Main text

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Differential overexpression of SERPINA3 in human prion diseases.

Scientific Reports

Vanni, S S; Moda, F F; Zattoni, M M; Bistaffa, E E; De Cecco, E E; Rossi, M M; Giaccone, G G; Tagliavini, F F; Haïk, S S; Deslys, J P JP; Zanusso, G G; Ironside, J W JW; Ferrer, I I; Kovacs, G G GG; Legname, G G

Publication Date: 2017-11-15

Variant appearance in text: CJD: Q212P

PubMed Link: 29142239

Variant Present in the following documents:

• Main text
• 41598_2017_Article_15778.pdf
• 41598_2017_15778_MOESM1_ESM.pdf

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Metal Dyshomeostasis and Their Pathological Role in Prion and Prion-Like Diseases: The Basis for a Nutritional Approach.

Frontiers In Neuroscience

Toni, Mattia M; Massimino, Maria L ML; De Mario, Agnese A; Angiulli, Elisa E; Spisni, Enzo E

Publication Date: 2017

Variant appearance in text: CJD: Q212P

PubMed Link: 28154522

Variant Present in the following documents:

• fnins-11-00003.pdf

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Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD

Publication Date: 2017-01

Variant appearance in text: PRNP: Q212P

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Quantitative EEG parameters correlate with the progression of human prion diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Franko, Edit E; Wehner, Tim T; Joly, Olivier O; Lowe, Jessica J; Porter, Marie-Claire MC; Kenny, Joanna J; Thompson, Andrew A; Rudge, Peter P; Collinge, John J; Mead, Simon S

Publication Date: 2016-10

Variant appearance in text: CJD: Q212P

PubMed Link: 27413165

Variant Present in the following documents:

• Main text

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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

Publication Date: 2016-06-24

Variant appearance in text: CJD: Q212P

PubMed Link: 27341298

Variant Present in the following documents:

• Main text
• srep28419.pdf

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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: Q212P

PubMed Link: 26645475

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: Q212P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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The cognitive profile of prion disease: a prospective clinical and imaging study.

Annals Of Clinical And Translational Neurology

Caine, Diana D; Tinelli, Renata J RJ; Hyare, Harpreet H; De Vita, Enrico E; Lowe, Jessica J; Lukic, Ana A; Thompson, Andrew A; Porter, Marie-Claire MC; Cipolotti, Lisa L; Rudge, Peter P; Collinge, John J; Mead, Simon S

Publication Date: 2015-05

Variant appearance in text: PRNP: Q212P

PubMed Link: 26000326

Variant Present in the following documents:

• Main text

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Degradation of misfolded proteins in neurodegenerative diseases: therapeutic targets and strategies.

Experimental & Molecular Medicine

Ciechanover, Aaron A; Kwon, Yong Tae YT

Publication Date: 2015-03-13

Variant appearance in text: CJD: Q212P

PubMed Link: 25766616

Variant Present in the following documents:

• Main text

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New insights into structural determinants of prion protein folding and stability.

Prion

Benetti, Federico F; Legname, Giuseppe G

Publication Date: 2015

Variant appearance in text: CJD: Q212P

PubMed Link: 25746597

Variant Present in the following documents:

• kprn-09-02-1022023.pdf

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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: Q212P

PubMed Link: 25333467

Variant Present in the following documents:

• Main text
• viruses-06-03875.pdf

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Prion protein interaction with soil humic substances: environmental implications.

Plos One

Giachin, Gabriele G; Narkiewicz, Joanna J; Scaini, Denis D; Ngoc, Ai Tran AT; Margon, Alja A; Sequi, Paolo P; Leita, Liviana L; Legname, Giuseppe G

Publication Date: 2014

Variant appearance in text: CJD: Q212P

PubMed Link: 24937266

Variant Present in the following documents:

• pone.0100016.pdf

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Predictive testing for inherited prion disease: report of 22 years experience.

European Journal Of Human Genetics : Ejhg

Owen, Jane J; Beck, Jon J; Campbell, Tracy T; Adamson, Gary G; Gorham, Michele M; Thompson, Andrew A; Smithson, Sarah S; Rosser, Elizabeth E; Rudge, Peter P; Collinge, John J; Mead, Simon S

Publication Date: 2014-12

Variant appearance in text: PRNP: Q212P

PubMed Link: 24713662

Variant Present in the following documents:

• Main text

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Prion protein misfolding, strains, and neurotoxicity: an update from studies on Mammalian prions.

International Journal Of Cell Biology

Poggiolini, Ilaria I; Saverioni, Daniela D; Parchi, Piero P

Publication Date: 2013

Variant appearance in text: CJD: Q212P

PubMed Link: 24454379

Variant Present in the following documents:

• Main text

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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: Q212P

PubMed Link: 24324497

Variant Present in the following documents:

• Main text
• IJCB2013-150952.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: Q212P

PubMed Link: 24113272

Variant Present in the following documents:

• Main text

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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: CJD: Q212P

PubMed Link: 23966072

Variant Present in the following documents:

• Main text

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Zinc drives a tertiary fold in the prion protein with familial disease mutation sites at the interface.

Structure (London, England : 1993)

Spevacek, Ann R AR; Evans, Eric G B EG; Miller, Jillian L JL; Meyer, Heidi C HC; Pelton, Jeffrey G JG; Millhauser, Glenn L GL

Publication Date: 2013-02-05

Variant appearance in text: CJD: Q212P

PubMed Link: 23290724

Variant Present in the following documents:

• Main text

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The landscape of the prion protein's structural response to mutation revealed by principal component analysis of multiple NMR ensembles.

Plos Computational Biology

Gendoo, Deena M A DM; Harrison, Paul M PM

Publication Date: 2012

Variant appearance in text: CJD: Q212P

PubMed Link: 22912570

Variant Present in the following documents:

• Main text
• pcbi.1002646.pdf

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Early structural features in mammalian prion conformation conversion.

Prion

Legname, Giuseppe G

Publication Date: 2012

Variant appearance in text: PRNP: Q212P

PubMed Link: 22453176

Variant Present in the following documents:

• Main text

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NMR structure of the human prion protein with the pathological Q212P mutation reveals unique structural features.

Plos One

Ilc, Gregor G; Giachin, Gabriele G; Jaremko, Mariusz M; Jaremko, Łukasz Ł; Benetti, Federico F; Plavec, Janez J; Zhukov, Igor I; Legname, Giuseppe G

Publication Date: 2010-07-22

Variant appearance in text: CJD: Q212P

PubMed Link: 20661422

Variant Present in the following documents:

• Main text

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