PRNP c.314C>T ;(p.P105L)

Variant ID: 20-4680180-C-T

NM_000311.3(PRNP):c.314C>T;(p.P105L)

This variant was identified in 85 publications

View GRCh38 version.




Publications:


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: P105L
PubMed Link: 36624183
Variant Present in the following documents:
  • 415_2022_11549_MOESM1_ESM.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: P105L
PubMed Link: 36614069
Variant Present in the following documents:
  • Main text
  • ijms-24-00625.pdf
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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: P105L
PubMed Link: 36291746
Variant Present in the following documents:
  • Main text
  • biomolecules-12-01537.pdf
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Characteristics of Different Types of Prion Diseases - China's Surveillance.

China Cdc Weekly
Shi, Qi Q; Chen, Cao C; Xiao, Kang K; Zhou, Wei W; Gao, Chen C; Gao, Liping L; Han, Jun J; Wang, Jichun J; Dong, Xiaoping X
Publication Date: 2022-08-19

Variant appearance in text: CJD: P105L
PubMed Link: 36285115
Variant Present in the following documents:
  • Main text
  • ccdcw-4-33-723.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: Pro105Leu
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: P105L
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: P105L
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: P105L
PubMed Link: 34948096
Variant Present in the following documents:
  • Main text
  • 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: P105L
PubMed Link: 34948096
Variant Present in the following documents:
  • Main text
  • ijms-22-13303.pdf
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Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP.

Neurology. Genetics
Thams, Sebastian S; Paucar, Martin M; Wingård, Louise L; Thonberg, Håkan H; Smith, Colin C; Nennesmo, Inger I; Svenningsson, Per P
Publication Date: 2021-12

Variant appearance in text: CJD: P105L
PubMed Link: 34746379
Variant Present in the following documents:
  • Main text
  • NG2020016576.pdf
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Swallowing Function Evaluation in a Patient with Gerstmann-Sträussler-Scheinker Disease with Pro105Leu: A Case Report.

International Journal Of Environmental Research And Public Health
Nakane, Ayako A; Hasegawa, Shohei S; Ishii, Miki M; Tamai, Tomoe T; Moritoyo, Rieko R; Saito, Mitsuko M; Ando, Mariko M; Tohara, Haruka H
Publication Date: 2021-09-15

Variant appearance in text: CJD: Pro105Leu
PubMed Link: 34574659
Variant Present in the following documents:
  • Main text
  • ijerph-18-09734.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: P105L
PubMed Link: 34360787
Variant Present in the following documents:
  • Main text
  • ijms-22-08022.pdf
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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: P105L
PubMed Link: 34209482
Variant Present in the following documents:
  • Main text
  • cells-10-01620.pdf
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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: P105L
PubMed Link: 33919317
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: 2021-10

Variant appearance in text: CJD: P105L
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: 2021-03-05

Variant appearance in text: CJD: P105L
PubMed Link: 33674752
Variant Present in the following documents:
  • Main text
  • 41380_2021_Article_1045.pdf
View BVdb publication page



Extracellular Protein Aggregates Colocalization and Neuronal Dystrophy in Comorbid Alzheimer's and Creutzfeldt-Jakob Disease: A Micromorphological Pilot Study on 20 Brains.

International Journal Of Molecular Sciences
Jankovska, Nikol N; Olejar, Tomas T; Matej, Radoslav R
Publication Date: 2021-02-20

Variant appearance in text: CJD: P105L
PubMed Link: 33672582
Variant Present in the following documents:
  • Main text
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: P105L
PubMed Link: 33345731
Variant Present in the following documents:
  • KPRN_14_1854034.pdf
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Clinical and Laboratory Features of Three Rare Chinese V210I gCJD Patients.

Pathogens (Basel, Switzerland)
Xiao, Kang K; Zhou, Wei W; Gao, Li-Ping LP; Wu, Yue-Zhang YZ; Wang, Yuan Y; Chen, Cao C; Gao, Chen C; Shi, Qi Q; Dong, Xiao-Ping XP
Publication Date: 2020-09-28

Variant appearance in text: CJD: P105L
PubMed Link: 32998248
Variant Present in the following documents:
  • Main text
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: P105L
PubMed Link: 32992764
Variant Present in the following documents:
  • Main text
View BVdb publication page



A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset.

Prion
Nomura, Taichi T; Iwata, Ikuko I; Naganuma, Ryoji R; Matsushima, Masaaki M; Satoh, Katsuya K; Kitamoto, Tetsuyuki T; Yabe, Ichiro I
Publication Date: 2020-12

Variant appearance in text: CJD: P105L
PubMed Link: 32938301
Variant Present in the following documents:
  • KPRN_14_1823179.pdf
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N-Terminal Regions of Prion Protein: Functions and Roles in Prion Diseases.

International Journal Of Molecular Sciences
Hara, Hideyuki H; Sakaguchi, Suehiro S
Publication Date: 2020-08-28

Variant appearance in text: CJD: P105L
PubMed Link: 32872280
Variant Present in the following documents:
  • Main text
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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: PRNP: P105L
PubMed Link: 32728168
Variant Present in the following documents:
  • 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: P105L
PubMed Link: 32560489
Variant Present in the following documents:
  • Main text
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Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.

Prion
Wu, Xiping X; Cui, Zhao Z; Guomin, Xie X; Wang, Haifeng H; Zhang, Xiaoling X; Li, Zhiguang Z; Sun, Qi Q; Qi, Feiteng F
Publication Date: 2020-12

Variant appearance in text: CJD: P105L
PubMed Link: 32501129
Variant Present in the following documents:
  • Main text
  • KPRN_14_1769528.pdf
View BVdb publication page



Profiles of 14-3-3 and Total Tau in CSF Samples of Chinese Patients of Different Genetic Prion Diseases.

Frontiers In Neuroscience
Chen, Cao C; Hu, Chao C; Shi, Qi Q; Zhou, Wei W; Xiao, Kang K; Wang, Yuan Y; Liu, Lian L; Chen, Jia J; Xia, Ying Y; Dong, Xiao-Ping XP
Publication Date: 2019

Variant appearance in text: CJD: P105L
PubMed Link: 31551692
Variant Present in the following documents:
  • Main text
  • fnins-13-00934.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: Pro105Leu
PubMed Link: 31340582
Variant Present in the following documents:
  • Main text
  • ijms-20-03606.pdf
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Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report.

Prion
Dai, Yanyuan Y; Lang, Yue Y; Ding, Mingxuan M; Zhang, Baizhuo B; Han, Xiaoou X; Duan, Guangyu G; Cui, Li L
Publication Date: 2019-01

Variant appearance in text: CJD: P105L
PubMed Link: 31238786
Variant Present in the following documents:
  • Main text
  • kprn-13-01-1631679.pdf
View BVdb publication page



Age at onset in genetic prion disease and the design of preventive clinical trials.

Neurology
Minikel, Eric Vallabh EV; Vallabh, Sonia M SM; Orseth, Margaret C MC; Brandel, Jean-Philippe JP; Haïk, Stéphane S; Laplanche, Jean-Louis JL; Zerr, Inga I; Parchi, Piero P; Capellari, Sabina S; Safar, Jiri J; Kenny, Janna J; Fong, Jamie C JC; Takada, Leonel T LT; Ponto, Claudia C; Hermann, Peter P; Knipper, Tobias T; Stehmann, Christiane C; Kitamoto, Tetsuyuki T; Ae, Ryusuke R; Hamaguchi, Tsuyoshi T; Sanjo, Nobuo N; Tsukamoto, Tadashi T; Mizusawa, Hidehiro H; Collins, Steven J SJ; Chiesa, Roberto R; Roiter, Ignazio I; de Pedro-Cuesta, Jesús J; Calero, Miguel M; Geschwind, Michael D MD; Yamada, Masahito M; Nakamura, Yosikazu Y; Mead, Simon S
Publication Date: 2019-07-09

Variant appearance in text: PRNP: P105L
PubMed Link: 31171647
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P105L
PubMed Link: 30934971
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P105L
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: P105L
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: P105L
PubMed Link: 30240140
Variant Present in the following documents:
  • Main text
View BVdb publication page



PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Bagyinszky, Eva E; Lee, Hye-Mi HM; Van Giau, Vo V; Koh, Seong-Beom SB; Jeong, Jee Hyang JH; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2018-09-02

Variant appearance in text: PRNP: Pro105Leu
PubMed Link: 30200536
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: PRNP: P105L
PubMed Link: 30147320
Variant Present in the following documents:
  • Main text
  • ndt-14-2067.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: P105L
PubMed Link: 29509064
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P105L
PubMed Link: 29458424
Variant Present in the following documents:
  • Main text
  • 40478_2018_Article_516.pdf
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Recombinant PrP and Its Contribution to Research on Transmissible Spongiform Encephalopathies.

Pathogens (Basel, Switzerland)
Charco, Jorge M JM; Eraña, Hasier H; Venegas, Vanessa V; García-Martínez, Sandra S; López-Moreno, Rafael R; González-Miranda, Ezequiel E; Pérez-Castro, Miguel Ángel MÁ; Castilla, Joaquín J
Publication Date: 2017-12-14

Variant appearance in text: PRNP: P105L
PubMed Link: 29240682
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P105L
PubMed Link: 28851967
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 314C>T; Pro105Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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: P105L
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: P105L
PubMed Link: 28416787
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P105L
PubMed Link: 27943639
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: P105L
PubMed Link: 27892798
Variant Present in the following documents:
  • Main text
  • kprn-10-06-1239686.pdf
View BVdb publication page



PrP-containing aggresomes are cytosolic components of an ER quality control mechanism.

Journal Of Cell Science
Dubnikov, Tatyana T; Ben-Gedalya, Tziona T; Reiner, Robert R; Hoepfner, Dominic D; Cabral, Wayne A WA; Marini, Joan C JC; Cohen, Ehud E
Publication Date: 2016-10-01

Variant appearance in text: PRNP: P105L
PubMed Link: 27550517
Variant Present in the following documents:
  • Main text
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PrP aggregation can be seeded by pre-formed recombinant PrP amyloid fibrils without the replication of infectious prions.

Acta Neuropathologica
Barron, Rona M RM; King, Declan D; Jeffrey, Martin M; McGovern, Gillian G; Agarwal, Sonya S; Gill, Andrew C AC; Piccardo, Pedro P
Publication Date: 2016-10

Variant appearance in text: CJD: P105L
PubMed Link: 27376534
Variant Present in the following documents:
  • Main text
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Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders.

Plos One
Lee, Sol Moe SM; Chung, Myungguen M; Hyeon, Jae Wook JW; Jeong, Seok Won SW; Ju, Young Ran YR; Kim, Heebal H; Lee, Jeongmin J; Kim, SangYun S; An, Seong Soo A SS; Cho, Sung Beom SB; Lee, Yeong Seon YS; Kim, Su Yeon SY
Publication Date: 2016

Variant appearance in text: PRNP: P105L
PubMed Link: 27341347
Variant Present in the following documents:
  • Main text
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Epidemiological characteristics of human prion diseases.

Infectious Diseases Of Poverty
Chen, Cao C; Dong, Xiao-Ping XP
Publication Date: 2016-06-02

Variant appearance in text: PRNP: P105L
PubMed Link: 27251305
Variant Present in the following documents:
  • Main text
  • 40249_2016_Article_143.pdf
View BVdb publication page