PRNP c.305C>T ;(p.P102L)

Variant ID: 20-4680171-C-T

NM_000311.3(PRNP):c.305C>T;(p.P102L)

This variant was identified in 290 publications

View GRCh38 version.




Publications:


Gerstmann-Sträussler-Scheinker Disease: A Case Report.

Journal Of The Korean Society Of Radiology
Shin, Minji M; Kim, Donghyun D; Heo, Young Jin YJ; Baek, Jin Wook JW; Yun, Suyoung S; Jeong, Hae Woong HW
Publication Date: 2023-05

Variant appearance in text: CJD: P102L
PubMed Link: 37325010
Variant Present in the following documents:
  • jksr-84-745.pdf
View BVdb publication page



Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease.

Brain : A Journal Of Neurology
Mok, Tze How TH; Nihat, Akin A; Majbour, Nour N; Sequeira, Danielle D; Holm-Mercer, Leah L; Coysh, Thomas T; Darwent, Lee L; Batchelor, Mark M; Groveman, Bradley R BR; Orrù, Christina D CD; Hughson, Andrew G AG; Heslegrave, Amanda A; Laban, Rhiannon R; Veleva, Elena E; Paterson, Ross W RW; Keshavan, Ashvini A; Schott, Jonathan J; Swift, Imogen J IJ; Heller, Carolin C; Rohrer, Jonathan D JD; Gerhard, Alexander A; Butler, Christopher C; Rowe, James B JB; Masellis, Mario M; Chapman, Miles M; Lunn, Michael P MP; Bieschke, Jan J; Jackson, Graham S GS; Zetterberg, Henrik H; Caughey, Byron B; Rudge, Peter P; Collinge, John J; Mead, Simon S
Publication Date: 2023-03-28

Variant appearance in text: CJD: P102L
PubMed Link: 36975162
Variant Present in the following documents:
  • Main text
  • awad101.pdf
  • awad101_supplementary_data.pdf
View BVdb publication page



Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease.

Heliyon
Kai, Hideaki H; Teruya, Kenta K; Takeuchi, Atsuko A; Nakamura, Yoshikazu Y; Mizusawa, Hidehiro H; Yamada, Masahito M; Kitamoto, Tetsuyuki T
Publication Date: 2023-03

Variant appearance in text: CJD: P102L
PubMed Link: 36915552
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Application of real-time quaking-induced conversion in Creutzfeldt-Jakob disease surveillance.

Journal Of Neurology
Hermann, Peter P; Schmitz, Matthias M; Cramm, Maria M; Goebel, Stefan S; Bunck, Timothy T; Schütte-Schmidt, Julia J; Schulz-Schaeffer, Walter W; Stadelmann, Christine C; Matschke, Jakob J; Glatzel, Markus M; Zerr, Inga I
Publication Date: 2023-01-10

Variant appearance in text: CJD: P102L
PubMed Link: 36624183
Variant Present in the following documents:
  • 415_2022_11549_MOESM1_ESM.pdf
View BVdb publication page



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: P102L
PubMed Link: 36614069
Variant Present in the following documents:
  • Main text
  • ijms-24-00625.pdf
View BVdb publication page



Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.

International Journal Of Molecular Sciences
Matsubayashi, Taiki T; Sanjo, Nobuo N
Publication Date: 2022-12-02

Variant appearance in text: CJD: P102L
PubMed Link: 36499498
Variant Present in the following documents:
  • Main text
  • ijms-23-15172.pdf
View BVdb publication page



Sporadic Creutzfeldt-Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance.

Journal Of Neurology
Tam, Johnny J; Centola, John J; Kurudzhu, Hatice H; Watson, Neil N; MacKenzie, Janet J; Leitch, Margaret M; Hughes, Terri T; Green, Alison A; Summers, David D; Barria, Marcelo M; Smith, Colin C; Pal, Suvankar S
Publication Date: 2022-11-05

Variant appearance in text: CJD: P102L
PubMed Link: 36334135
Variant Present in the following documents:
  • Main text
  • 415_2022_Article_11467.pdf
View BVdb publication page



Genetic aspects of human prion diseases.

Frontiers In Neurology
Appleby, Brian S BS; Shetty, Shashirekha S; Elkasaby, Mohamed M
Publication Date: 2022

Variant appearance in text: PRNP: P102L
PubMed Link: 36277922
Variant Present in the following documents:
  • Main text
  • fneur-13-1003056.pdf
View BVdb publication page



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: P102L
PubMed Link: 35819518
Variant Present in the following documents:
  • Main text
  • 401_2022_Article_2461.pdf
View BVdb publication page



Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage.

Cureus
Suzuki, Yutaro Y; Sugiyama, Atsuhiko A; Muto, Mayumi M; Satoh, Katsuya K; Kitamoto, Tetsuyuki T; Kuwabara, Satoshi S
Publication Date: 2022-03

Variant appearance in text: PRNP: P102L
PubMed Link: 35475058
Variant Present in the following documents:
  • cureus-0014-00000023374.pdf
View BVdb publication page



Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review.

Medicina (Kaunas, Lithuania)
Altuna, Miren M; Ruiz, Iñigo I; Zelaya, María Victoria MV; Mendioroz, Maite M
Publication Date: 2022-03-25

Variant appearance in text: PRNP: 305C>T
PubMed Link: 35454316
Variant Present in the following documents:
  • medicina-58-00473.pdf
View BVdb publication page



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: CJD: Pro102Leu
PubMed Link: 35216001
Variant Present in the following documents:
  • Main text
  • viruses-14-00408.pdf
View BVdb publication page



Development of novel clinical examination scales for the measurement of disease severity in Creutzfeldt-Jakob disease.

Journal Of Neurology, Neurosurgery, And Psychiatry
Nihat, Akin A; Mok, Tze How TH; Odd, Hans H; Thompson, Andrew Geoffrey Bourne AGB; Caine, Diana D; McNiven, Kirsty K; O'Donnell, Veronica V; Tesfamichael, Selam S; Rudge, Peter P; Collinge, John J; Mead, Simon S
Publication Date: 2022-04

Variant appearance in text: CJD: P102L
PubMed Link: 35022318
Variant Present in the following documents:
  • Main text
  • jnnp-2021-327722.pdf
View BVdb publication page



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: P102L
PubMed Link: 34960722
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P102L
PubMed Link: 34948096
Variant Present in the following documents:
  • Main text
  • ijms-22-13303.pdf
View BVdb publication page



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: P102L
PubMed Link: 34948096
Variant Present in the following documents:
  • Main text
  • ijms-22-13303.pdf
View BVdb publication page



A Japanese family with P102L Gerstmann-Sträussler-Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report.

Eneurologicalsci
Ota, Kazumichi K; Nakazato, Yoshihiko Y; Yokoyama, Ryu R; Kawasaki, Hitoshi H; Tamura, Naotoshi N; Ohtake, Akira A; Saito-Tsuruoka, Megumi M; Yamamoto, Toshimasa T
Publication Date: 2021-12

Variant appearance in text: CJD: P102L
PubMed Link: 34841096
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P102L
PubMed Link: 34831353
Variant Present in the following documents:
  • Main text
  • cells-10-03132.pdf
View BVdb publication page



Virus Infection, Genetic Mutations, and Prion Infection in Prion Protein Conversion.

International Journal Of Molecular Sciences
Hara, Hideyuki H; Sakaguchi, Suehiro S
Publication Date: 2021-11-18

Variant appearance in text: CJD: P102L
PubMed Link: 34830321
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Oxidative Stress with Neurological Disorders.

Current Neuropharmacology
Hassan, Waseem W; Noreen, Hamsa H; Rehman, Shakila S; Kamal, Mohammad Amjad MA; da Rocha, Joao Batista Teixeira JBT
Publication Date: 2022

Variant appearance in text: PRNP: P102L
PubMed Link: 34781871
Variant Present in the following documents:
  • CN-20-1046.pdf
View BVdb publication page



Human Prion Disorders: Review of the Current Literature and a Twenty-Year Experience of the National Surveillance Center in the Czech Republic.

Diagnostics (Basel, Switzerland)
Jankovska, Nikol N; Rusina, Robert R; Bruzova, Magdalena M; Parobkova, Eva E; Olejar, Tomas T; Matej, Radoslav R
Publication Date: 2021-10-01

Variant appearance in text: PRNP: P102L
PubMed Link: 34679519
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P102L
PubMed Link: 34663460
Variant Present in the following documents:
  • Main text
  • 13195_2021_Article_912.pdf
View BVdb publication page



Xiaoping Dong, China CDC's Chief Expert of Virology.

China Cdc Weekly
Chen, Yu Y; Hao, Peter P; Liu, Nankun N; Li, Zhenjun Z; Xi, Jingjing J; Tan, Feng F
Publication Date: 2021-05-07

Variant appearance in text: CJD: P102L
PubMed Link: 34594897
Variant Present in the following documents:
  • ccdcw-3-19-414.pdf
View BVdb publication page



NGS in Hereditary Ataxia: When Rare Becomes Frequent.

International Journal Of Molecular Sciences
Galatolo, Daniele D; De Michele, Giovanna G; Silvestri, Gabriella G; Leuzzi, Vincenzo V; Casali, Carlo C; Musumeci, Olimpia O; Antenora, Antonella A; Astrea, Guja G; Barghigiani, Melissa M; Battini, Roberta R; Battisti, Carla C; Caputi, Caterina C; Cioffi, Ettore E; De Michele, Giuseppe G; Dotti, Maria Teresa MT; Fico, Tommasina T; Fiorillo, Chiara C; Galosi, Serena S; Lieto, Maria M; Malandrini, Alessandro A; Melone, Marina A B MAB; Mignarri, Andrea A; Natale, Gemma G; Pegoraro, Elena E; Petrucci, Antonio A; Ricca, Ivana I; Riso, Vittorio V; Rossi, Salvatore S; Rubegni, Anna A; Scarlatti, Arianna A; Tinelli, Francesca F; Trovato, Rosanna R; Tedeschi, Gioacchino G; Tessa, Alessandra A; Filla, Alessandro A; Santorelli, Filippo Maria FM
Publication Date: 2021-08-06

Variant appearance in text: PRNP: 305C>T; Pro102Leu
PubMed Link: 34445196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Viral and Prion Infections Associated with Central Nervous System Syndromes in Brazil.

Viruses
Sousa, Ivanildo P IP; Dos Santos, Flavia B FB; de Paula, Vanessa S VS; Vieira, Tuane C R G TCRG; Dias, Helver G HG; Barros, Caroline A CA; da Silva, Edson E EE
Publication Date: 2021-07-15

Variant appearance in text: CJD: P102L
PubMed Link: 34372576
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P102L
PubMed Link: 34360787
Variant Present in the following documents:
  • Main text
  • ijms-22-08022.pdf
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: PRNP: P102L
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



MicroRNAs in Prion Diseases-From Molecular Mechanisms to Insights in Translational Medicine.

Cells
Contiliani, Danyel Fernandes DF; Ribeiro, Yasmin de Araújo YA; de Moraes, Vitor Nolasco VN; Pereira, Tiago Campos TC
Publication Date: 2021-06-29

Variant appearance in text: PRNP: P102L
PubMed Link: 34209482
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of Prions in Brain Homogenates and CSF Samples Using a Second-Generation RT-QuIC Assay: A Useful Tool for Retrospective Analysis of Archived Samples.

Pathogens (Basel, Switzerland)
Moško, Tibor T; Galušková, Soňa S; Matěj, Radoslav R; Brůžová, Magdalena M; Holada, Karel K
Publication Date: 2021-06-13

Variant appearance in text: CJD: P102L
PubMed Link: 34199205
Variant Present in the following documents:
  • Main text
  • pathogens-10-00750.pdf
View BVdb publication page



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: P102L
PubMed Link: 34128081
Variant Present in the following documents:
  • Main text
  • 401_2021_Article_2336.pdf
View BVdb publication page



How an Infection of Sheep Revealed Prion Mechanisms in Alzheimer's Disease and Other Neurodegenerative Disorders.

International Journal Of Molecular Sciences
Carlson, George A GA; Prusiner, Stanley B SB
Publication Date: 2021-05-04

Variant appearance in text: PRNP: P102L
PubMed Link: 34064393
Variant Present in the following documents:
  • Main text
View BVdb publication page



The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.

Nature Reviews. Neurology
Watson, Neil N; Brandel, Jean-Philippe JP; Green, Alison A; Hermann, Peter P; Ladogana, Anna A; Lindsay, Terri T; Mackenzie, Janet J; Pocchiari, Maurizio M; Smith, Colin C; Zerr, Inga I; Pal, Suvankar S
Publication Date: 2021-06

Variant appearance in text: PRNP: P102L
PubMed Link: 33972773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Use of Improved Diagnostic Testing for Detection of Prion Disease.

Viruses
Figgie, Mark P MP; Appleby, Brian S BS
Publication Date: 2021-04-28

Variant appearance in text: PRNP: P102L
PubMed Link: 33925126
Variant Present in the following documents:
  • Main text
View BVdb publication page



Further Characterization of Glycoform-Selective Prions of Variably Protease-Sensitive Prionopathy.

Pathogens (Basel, Switzerland)
Zhang, Weiguanliu W; Xiao, Xiangzhu X; Ding, Mingxuan M; Yuan, Jue J; Foutz, Aaron A; Moudjou, Mohammed M; Kitamoto, Tetsuyuki T; Langeveld, Jan P M JPM; Cui, Li L; Zou, Wen-Quan WQ
Publication Date: 2021-04-23

Variant appearance in text: CJD: P102L
PubMed Link: 33922765
Variant Present in the following documents:
  • Main text
View BVdb publication page



Utilising Induced Pluripotent Stem Cells in Neurodegenerative Disease Research: Focus on Glia.

International Journal Of Molecular Sciences
Albert, Katrina K; Niskanen, Jonna J; Kälvälä, Sara S; Lehtonen, Šárka Š
Publication Date: 2021-04-21

Variant appearance in text: PRNP: P102L
PubMed Link: 33919317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as cervical spondylotic myelopathy: A case report with 5-year follow-up.

Medicine
Cao, Liming L; Feng, Hongye H; Huang, Xuming X; Yi, Jiamei J; Zhou, Yanxia Y
Publication Date: 2021-04-23

Variant appearance in text: PRNP: 305C>T; P102L
PubMed Link: 33879752
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Latest Research on RT-QuIC Assays-A Literature Review.

Pathogens (Basel, Switzerland)
Dong, Thi-Thu-Trang TT; Satoh, Katsuya K
Publication Date: 2021-03-05

Variant appearance in text: CJD: P102L
PubMed Link: 33807776
Variant Present in the following documents:
  • Main text
  • pathogens-10-00305.pdf
View BVdb publication page



Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17

Variant appearance in text: PRNP: 305C>T; Pro102Leu
PubMed Link: 33726816
Variant Present in the following documents:
  • 13073_2021_855_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: P102L
PubMed Link: 33674752
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P102L
PubMed Link: 33674752
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: CJD: P102L
PubMed Link: 33664355
Variant Present in the following documents:
  • Main text
View BVdb publication page



The G127V variant of the prion protein interferes with dimer formation in vitro but not in cellulo.

Scientific Reports
Sangeetham, Sudheer Babu SB; Engelke, Anna Dorothee AD; Fodor, Elfrieda E; Krausz, Sarah Laura SL; Tatzelt, Jörg J; Welker, Ervin E
Publication Date: 2021-02-04

Variant appearance in text: CJD: P102L
PubMed Link: 33542378
Variant Present in the following documents:
  • 41598_2021_Article_82647.pdf
View BVdb publication page



Extracellular Amyloid Deposits in Alzheimer's and Creutzfeldt-Jakob Disease: Similar Behavior of Different Proteins?

International Journal Of Molecular Sciences
Jankovska, Nikol N; Olejar, Tomas T; Matej, Radoslav R
Publication Date: 2020-12-22

Variant appearance in text: PRNP: P102L
PubMed Link: 33374972
Variant Present in the following documents:
  • Main text
  • ijms-22-00007.pdf
View BVdb publication page



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: P102L
PubMed Link: 33345731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Challenges and Advances in Antemortem Diagnosis of Human Transmissible Spongiform Encephalopathies.

Frontiers In Bioengineering And Biotechnology
Ascari, Lucas M LM; Rocha, Stephanie C SC; Gonçalves, Priscila B PB; Vieira, Tuane C R G TCRG; Cordeiro, Yraima Y
Publication Date: 2020

Variant appearance in text: PRNP: P102L
PubMed Link: 33195151
Variant Present in the following documents:
  • Main text
View BVdb publication page



Incidence of and Mortality Due to Human Prion Diseases in Taiwan: A Prospective 20-Year Nationwide Surveillance Study from 1998 to 2017.

Clinical Epidemiology
Sun, Yu Y; Liu, Chih-Ching CC; Fan, Ling-Yun LY; Huang, Chung-Te CT; Chen, Ta-Fu TF; Lu, Chien-Jung CJ; Guo, Wan-Yuo WY; Chang, Yang-Chyuan YC; Chiu, Ming-Jang MJ
Publication Date: 2020

Variant appearance in text: CJD: P102L
PubMed Link: 33116901
Variant Present in the following documents:
  • Main text
  • clep-12-1073.pdf
View BVdb publication page



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: CJD: P102L
PubMed Link: 32992764
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of Vesicle Trafficking Defects in the Pathogenesis of Prion and Prion-Like Disorders.

International Journal Of Molecular Sciences
Cherry, Pearl P; Gilch, Sabine S
Publication Date: 2020-09-23

Variant appearance in text: PRNP: P102L
PubMed Link: 32977678
Variant Present in the following documents:
  • Main text
View BVdb publication page



Putaminal diffusion tensor imaging measures predict disease severity across human prion diseases.

Brain Communications
Hyare, Harpreet H; De Vita, Enrico E; Porter, Marie-Claire MC; Simpson, Ivor I; Ridgway, Gerard G; Lowe, Jessica J; Thompson, Andrew A; Carswell, Chris C; Ourselin, Sebastien S; Modat, Marc M; Dos Santos Canas, Liane L; Caine, Diana D; Fox, Zoe Z; Rudge, Peter P; Collinge, John J; Mead, Simon S; Thornton, John S JS
Publication Date: 2020

Variant appearance in text: PRNP: P102L
PubMed Link: 32954290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two distinct prions in fatal familial insomnia and its sporadic form.

Brain Communications
Takeuchi, Atsuko A; Mohri, Shirou S; Kai, Hideaki H; Tamaoka, Akira A; Kobayashi, Atsushi A; Mizusawa, Hidehiro H; Iwasaki, Yasushi Y; Yoshida, Mari M; Shimizu, Hiroshi H; Murayama, Shigeo S; Kuroda, Shigetoshi S; Morita, Masanori M; Parchi, Piero P; Kitamoto, Tetsuyuki T
Publication Date: 2019

Variant appearance in text: PRNP: P102L
PubMed Link: 32954274
Variant Present in the following documents:
  • Main text
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Characterization of Anchorless Human PrP With Q227X Stop Mutation Linked to Gerstmann-Sträussler-Scheinker Syndrome In Vivo and In Vitro.

Molecular Neurobiology
Shen, Pingping P; Dang, Johnny J; Wang, Zerui Z; Zhang, Weiguanliu W; Yuan, Jue J; Lang, Yue Y; Ding, Mingxuan M; Mitchell, Marcus M; Kong, Qingzhong Q; Feng, Jiachun J; Rozemuller, Annemiek J M AJM; Cui, Li L; Petersen, Robert B RB; Zou, Wen-Quan WQ
Publication Date: 2021-01

Variant appearance in text: CJD: P102L
PubMed Link: 32889654
Variant Present in the following documents:
  • 12035_2020_Article_2098.pdf
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