Publications:

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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: G114V

PubMed Link: 36614069

Variant Present in the following documents:

• Main text
• ijms-24-00625.pdf

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Activation of Innate Immunity and Autophagy in Brain Tissues with Prion Disease and Degradation of Abnormal PrPs in Cells - China's Studies.

China Cdc Weekly

Chen, Cao C; Shi, Qi Q; 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: G114V

PubMed Link: 36285112

Variant Present in the following documents:

• Main text
• ccdcw-4-33-735.pdf

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The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.

Medicina (Kaunas, Lithuania)

Won, Sae-Young SY; Kim, Yong-Chan YC; Lee, Yu-Ni YN; Park, Chan-Gyun CG; Kim, Woo-Young WY; Jeong, Byung-Hoon BH

Publication Date: 2022-07-18

Variant appearance in text: PRNP: G114V

PubMed Link: 35888666

Variant Present in the following documents:

• Main text
• medicina-58-00947.pdf

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Application of α-Syn Real-Time Quaking-Induced Conversion for Brain and Skin Specimens of the Chinese Patients With Parkinson's Disease.

Frontiers In Aging Neuroscience

Chen, Dong-Dong DD; Jiao, Ling L; Huang, Yue Y; Xiao, Kang K; Gao, Li-Ping LP; Chen, Cao C; Shi, Qi Q; Dong, Xiao-Ping XP

Publication Date: 2022

Variant appearance in text: CJD: G114V

PubMed Link: 35847665

Variant Present in the following documents:

• Main text
• fnagi-14-898516.pdf

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Case Report: Genetic Creutzfeldt-Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia.

Frontiers In Neurology

Lin, Xue X; Xu, Yichen Y; Zhen, Zhen Z; Xiao, Kang K; Chen, Xu X; Yang, Jigang J; Guan, Hongzhi H; Shi, Qi Q; Dong, Xiaoping X; Wang, Jiawei J; Guo, Yanjun Y

Publication Date: 2022

Variant appearance in text: PRNP: 341G>T

PubMed Link: 35812092

Variant Present in the following documents:

• Main text
• fneur-13-888309.pdf

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Genotype by environment interactions for chronic wasting disease in farmed US white-tailed deer.

G3 (Bethesda, Md.)

Seabury, Christopher M CM; Lockwood, Mitchell A MA; Nichols, Tracy A TA

Publication Date: 2022-07-06

Variant appearance in text: PRNP: G114V

PubMed Link: 35536181

Variant Present in the following documents:

• jkac109.pdf

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Proposal of new diagnostic criteria for fatal familial insomnia.

Journal Of Neurology

Chu, Min M; Xie, Kexin K; Zhang, Jing J; Chen, Zhongyun Z; Ghorayeb, Imad I; Rupprecht, Sven S; Reder, Anthony T AT; Garay, Arturo A; Honda, Hiroyuki H; Nagayama, Masao M; Shi, Qi Q; Zhan, Shuqin S; Nan, Haitian H; Zhang, Jiatang J; Guan, Hongzhi H; Cui, Li L; Guo, Yanjun Y; Rosa-Neto, Pedro P; Gauthier, Serge S; Wang, Jiawei J; Dong, Xiaoping X; Wu, Liyong L

Publication Date: 2022-09

Variant appearance in text: PRNP: G114V

PubMed Link: 35501502

Variant Present in the following documents:

• 415_2022_11135_MOESM3_ESM.pdf
• 415_2022_Article_11135.pdf

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Creutzfeldt-Jakob Disease: Alterations of Gut Microbiota.

Frontiers In Neurology

Guo, Yanjun Y; Xu, Yichen Y; Lin, Xue X; Zhen, Zhen Z; Yi, Fang F; Guan, Hongzhi H; Shi, Qi Q; Sun, Wenjie W; Yang, Anchao A; Dong, Xiaoping X; Wang, Jiawei J

Publication Date: 2022

Variant appearance in text: PRNP: G114V

PubMed Link: 35493823

Variant Present in the following documents:

• Main text
• fneur-13-832599.pdf

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Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

Brain : A Journal Of Neurology

Schmitz, Matthias M; Villar-Piqué, Anna A; Hermann, Peter P; Escaramís, Geòrgia G; Calero, Miguel M; Chen, Cao C; Kruse, Niels N; Cramm, Maria M; Golanska, Ewa E; Sikorska, Beata B; Liberski, Pawel P PP; Pocchiari, Maurizio M; Lange, Peter P; Stehmann, Christiane C; Sarros, Shannon S; Martí, Eulàlia E; Baldeiras, Inês I; Santana, Isabel I; Žáková, Dana D; Mitrová, Eva E; Dong, Xiao-Ping XP; Collins, Steven S; Poleggi, Anna A; Ladogana, Anna A; Mollenhauer, Brit B; Kovacs, Gabor G GG; Geschwind, Michael D MD; Sánchez-Valle, Raquel R; Zerr, Inga I; Llorens, Franc F

Publication Date: 2022-04-18

Variant appearance in text: CJD: G114V

PubMed Link: 35288744

Variant Present in the following documents:

• Main text

View BVdb publication page

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Validation and Application of Skin RT-QuIC to Patients in China with Probable CJD.

Pathogens (Basel, Switzerland)

Xiao, Kang K; Yang, Xuehua X; Zhou, Wei W; Chen, Cao C; Shi, Qi Q; Dong, Xiaoping X

Publication Date: 2021-12-19

Variant appearance in text: CJD: G114V

PubMed Link: 34959597

Variant Present in the following documents:

• Main text
• pathogens-10-01642.pdf

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Validation and Application of Skin RT-QuIC to Patients in China with Probable CJD.

Pathogens (Basel, Switzerland)

Xiao, Kang K; Yang, Xuehua X; Zhou, Wei W; Chen, Cao C; Shi, Qi Q; Dong, Xiaoping X

Publication Date: 2021-12-19

Variant appearance in text: CJD: G114V

PubMed Link: 34959597

Variant Present in the following documents:

• Main text
• pathogens-10-01642.pdf

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

Cells

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

Publication Date: 2021-11-11

Variant appearance in text: CJD: G114V

PubMed Link: 34831353

Variant Present in the following documents:

• Main text
• cells-10-03132.pdf

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Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

Acta Neuropathologica

Baiardi, Simone S; Rossi, Marcello M; Mammana, Angela A; Appleby, Brian S BS; Barria, Marcelo A MA; Calì, Ignazio I; Gambetti, Pierluigi P; Gelpi, Ellen E; Giese, Armin A; Ghetti, Bernardino B; Herms, Jochen J; Ladogana, Anna A; Mikol, Jacqueline J; Pal, Suvankar S; Ritchie, Diane L DL; Ruf, Viktoria V; Windl, Otto O; Capellari, Sabina S; Parchi, Piero P

Publication Date: 2021-10

Variant appearance in text: CJD: G114V

PubMed Link: 34324063

Variant Present in the following documents:

• Main text
• 401_2021_Article_2350.pdf

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A Chinese patient with the clinical features of Parkinson's disease contains a single copy of octarepeat deletion in PRNP case report.

Prion

Shi, Qi Q; Shen, Xiao-Jing XJ; Gao, Li-Ping LP; Xiao, Kang K; Zhou, Wei W; Wang, Yuan Y; Chen, Cao C; Dong, Xiao-Ping XP

Publication Date: 2021-12

Variant appearance in text: CJD: G114V

PubMed Link: 34224312

Variant Present in the following documents:

• Main text
• KPRN_15_1946376.pdf

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White Matter Integrity Involvement in the Preclinical Stage of Familial Creutzfeldt-Jakob Disease: A Diffusion Tensor Imaging Study.

Frontiers In Aging Neuroscience

Jing, Donglai D; Chen, Yaojing Y; Xie, Kexin K; Cui, Yue Y; Cui, Chunlei C; Liu, Li L; Lu, Hui H; Ye, Jing J; Gao, Ran R; Wang, Lin L; Liang, Zhigang Z; Zhang, Zhanjun Z; Wu, Liyong L

Publication Date: 2021

Variant appearance in text: PRNP: G114V

PubMed Link: 34093166

Variant Present in the following documents:

• Main text
• fnagi-13-655667.pdf

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Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia

Ramos, Claudia C; Aguillon, David D; Cordano, Christian C; Lopera, Francisco F

Publication Date: 2020

Variant appearance in text: PRNP: G114V

PubMed Link: 32973976

Variant Present in the following documents:

• Main text
• 1980-5764-dn-14-03-223.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: CJD: G114V

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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Cryo-EM structure of a human prion fibril with a hydrophobic, protease-resistant core.

Nature Structural & Molecular Biology

Glynn, Calina C; Sawaya, Michael R MR; Ge, Peng P; Gallagher-Jones, Marcus M; Short, Connor W CW; Bowman, Ronquiajah R; Apostol, Marcin M; Zhou, Z Hong ZH; Eisenberg, David S DS; Rodriguez, Jose A JA

Publication Date: 2020-05

Variant appearance in text: CJD: G114V

PubMed Link: 32284600

Variant Present in the following documents:

• Main text
• nihms-1569853.pdf

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Significant enhanced expressions of aquaporin-1, -4 and -9 in the brains of various prion diseases.

Prion

Shi, Qi Q; Wu, Yue-Zhang YZ; Yang, Xuehua X; Xiao, Kang K; Maimaitiming, Adalaiti A; Gao, Li-Ping LP; Chen, Cao C; Gao, Chen C; Guo, Yanjun Y; Dong, Xiao-Ping XP

Publication Date: 2019-01

Variant appearance in text: CJD: G114V

PubMed Link: 31814527

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transmissibility versus Pathogenicity of Self-Propagating Protein Aggregates.

Viruses

Caughey, Byron B; Kraus, Allison A

Publication Date: 2019-11-09

Variant appearance in text: CJD: G114V

PubMed Link: 31717531

Variant Present in the following documents:

• viruses-11-01044.pdf

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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: G114V

PubMed Link: 31551692

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Gly114Val

PubMed Link: 31447551

Variant Present in the following documents:

• Main text
• cia-14-1387.pdf

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

Viruses

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

Publication Date: 2019-03-29

Variant appearance in text: CJD: G114V

PubMed Link: 30934971

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oxidative and Inflammatory Events in Prion Diseases: Can They Be Therapeutic Targets?

Current Aging Science

Prasad, Kedar N KN; Bondy, Stephen C SC

Publication Date: 2019

Variant appearance in text: CJD: G114v

PubMed Link: 30636622

Variant Present in the following documents:

• Main text
• CAS-11-216.pdf

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The first report of polymorphisms and genetic characteristics of the prion protein gene (PRNP) in horses.

Prion

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

Publication Date: 2018

Variant appearance in text: PRNP: G114V

PubMed Link: 30165784

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G114V

PubMed Link: 30147320

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impaired transmissibility of atypical prions from genetic CJDG114V.

Neurology. Genetics

Cali, Ignazio I; Mikhail, Fadi F; Qin, Kefeng K; Gregory, Crystal C; Solanki, Ani A; Martinez, Manuel Camacho MC; Zhao, Lili L; Appleby, Brian B; Gambetti, Pierluigi P; Norstrom, Eric E; Mastrianni, James A JA

Publication Date: 2018-08

Variant appearance in text: PRNP: 341G>T

PubMed Link: 30109268

Variant Present in the following documents:

• Main text
• NG2018007617.pdf

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Decrease of RyR2 in the prion infected cell line and in the brains of the scrapie infected mice models and the patients of human prion diseases.

Prion

Shi, Qi Q; Li, Jian-Le JL; Ma, Yue Y; Gao, Li-Ping LP; Xiao, Kang K; Wang, Jing J; Zhou, Wei W; Chen, Cao C; Guo, Yan-Jun YJ; Dong, Xiao-Ping XP

Publication Date: 2018

Variant appearance in text: CJD: G114V

PubMed Link: 29676187

Variant Present in the following documents:

• Main text

View BVdb publication page

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Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant.

Neurology. Genetics

Margolesky, Jason J; Saporta, Mario M

Publication Date: 2018-04

Variant appearance in text: PRNP: 341G>T

PubMed Link: 29577079

Variant Present in the following documents:

• Main text

View BVdb publication page

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Could Proteomics Become a Future Useful Tool to Shed Light on the Mechanisms of Rare Neurodegenerative Disorders?

High-Throughput

Cagnone, Maddalena M; Bardoni, Anna A; Iadarola, Paolo P; Viglio, Simona S

Publication Date: 2018-01-10

Variant appearance in text: CJD: G114V

PubMed Link: 29485613

Variant Present in the following documents:

• Main text

View BVdb publication page

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An in vivo 11C-PK PET study of microglia activation in Fatal Familial Insomnia.

Annals Of Clinical And Translational Neurology

Iaccarino, Leonardo L; Presotto, Luca L; Bettinardi, Valentino V; Gianolli, Luigi L; Roiter, Ignazio I; Capellari, Sabina S; Parchi, Piero P; Cortelli, Pietro P; Perani, Daniela D

Publication Date: 2018-01

Variant appearance in text: CJD: G114V

PubMed Link: 29376088

Variant Present in the following documents:

• ACN3-5-11.pdf

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Genetic PrP Prion Diseases.

Cold Spring Harbor Perspectives In Biology

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

Publication Date: 2018-05-01

Variant appearance in text: CJD: G114V

PubMed Link: 28778873

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Role of Microglia in Prion Diseases: A Paradigm of Functional Diversity.

Frontiers In Aging Neuroscience

Obst, Juliane J; Simon, Emilie E; Mancuso, Renzo R; Gomez-Nicola, Diego D

Publication Date: 2017

Variant appearance in text: CJD: G114V

PubMed Link: 28690540

Variant Present in the following documents:

• fnagi-09-00207.pdf

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Proteomic approaches to quantify cysteine reversible modifications in aging and neurodegenerative diseases.

Proteomics. Clinical Applications

Gu, Liqing L; Robinson, Renã A S RA

Publication Date: 2016-12

Variant appearance in text: CJD: G114V

PubMed Link: 27666938

Variant Present in the following documents:

• Main text

View BVdb publication page

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Low activity of complement in the cerebrospinal fluid of the patients with various prion diseases.

Infectious Diseases Of Poverty

Chen, Cao C; Lv, Yan Y; Shi, Qi Q; Zhou, Wei W; Xiao, Kang K; Sun, Jing J; Yang, Xiao-Dong XD; Dong, Xiao-Ping XP

Publication Date: 2016-05-03

Variant appearance in text: CJD: G114V

PubMed Link: 27138196

Variant Present in the following documents:

• Main text
• 40249_2016_Article_128.pdf

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Genetic and Transcriptomic Profiles of Inflammation in Neurodegenerative Diseases: Alzheimer, Parkinson, Creutzfeldt-Jakob and Tauopathies.

International Journal Of Molecular Sciences

López González, Irene I; Garcia-Esparcia, Paula P; Llorens, Franc F; Ferrer, Isidre I

Publication Date: 2016-02-04

Variant appearance in text: CJD: G114V

PubMed Link: 26861289

Variant Present in the following documents:

• ijms-17-00206.pdf

View BVdb publication page

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Familial prion protein mutants inhibit Hrd1-mediated retrotranslocation of misfolded proteins by depleting misfolded protein sensor BiP.

Human Molecular Genetics

Peters, Sarah L SL; Déry, Marc-André MA; LeBlanc, Andrea C AC

Publication Date: 2016-03-01

Variant appearance in text: PRNP: G114V

PubMed Link: 26740554

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteomics analyses for the global proteins in the brain tissues of different human prion diseases.

Molecular & Cellular Proteomics : Mcp

Shi, Qi Q; Chen, Li-Na LN; Zhang, Bao-Yun BY; Xiao, Kang K; Zhou, Wei W; Chen, Cao C; Zhang, Xiao-Mei XM; Tian, Chan C; Gao, Chen C; Wang, Jing J; Han, Jun J; Dong, Xiao-Ping XP

Publication Date: 2015-04

Variant appearance in text: CJD: G114V

PubMed Link: 25616867

Variant Present in the following documents:

• Main text
• zjw854.pdf

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Genetic studies in human prion diseases.

Journal Of Korean Medical Science

Jeong, Byung-Hoon BH; Kim, Yong-Sun YS

Publication Date: 2014-05

Variant appearance in text: CJD: G114V

PubMed Link: 24851016

Variant Present in the following documents:

• jkms-29-623.pdf

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Brain microglia were activated in sporadic CJD but almost unchanged in fatal familial insomnia and G114V genetic CJD.

Virology Journal

Shi, Qi Q; Xie, Wu-Ling WL; Zhang, Baoyun B; Chen, Li-Na LN; Xu, Yin Y; Wang, Ke K; Ren, Ke K; Zhang, Xiao-Mei XM; Chen, Cao C; Zhang, Jin J; Dong, Xiao-Ping XP

Publication Date: 2013-07-01

Variant appearance in text: CJD: G114V

PubMed Link: 23816234

Variant Present in the following documents:

• Main text
• 1743-422X-10-216.pdf

View BVdb publication page

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Homodimerization as a molecular switch between low and high efficiency PrP C cell surface delivery and neuroprotective activity.

Prion

Béland, Maxime M; Roucou, Xavier X

Publication Date: 2013

Variant appearance in text: PRNP: Gly114Val

PubMed Link: 23357826

Variant Present in the following documents:

• Main text

View BVdb publication page

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Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases.

Autophagy

Xu, Yin Y; Tian, Chan C; Wang, Shao-Bin SB; Xie, Wu-Ling WL; Guo, Yan Y; Zhang, Jin J; Shi, Qi Q; Chen, Cao C; Dong, Xiao-Ping XP

Publication Date: 2012-11

Variant appearance in text: CJD: G114V

PubMed Link: 22874564

Variant Present in the following documents:

• Main text

View BVdb publication page

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Protein disulfide isomerase regulates endoplasmic reticulum stress and the apoptotic process during prion infection and PrP mutant-induced cytotoxicity.

Plos One

Wang, Shao-Bin SB; Shi, Qi Q; Xu, Yin Y; Xie, Wu-Ling WL; Zhang, Jin J; Tian, Chan C; Guo, Yan Y; Wang, Ke K; Zhang, Bao-Yun BY; Chen, Cao C; Gao, Chen C; Dong, Xiao-Ping XP

Publication Date: 2012

Variant appearance in text: CJD: G114V

PubMed Link: 22685557

Variant Present in the following documents:

• Main text

View BVdb publication page

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The epidemiological, clinical, and laboratory features of sporadic Creutzfeldt-Jakob disease patients in China: surveillance data from 2006 to 2010.

Plos One

Gao, Chen C; Shi, Qi Q; Tian, Chan C; Chen, Cao C; Han, Jun J; Zhou, Wei W; Zhang, Bao-Yun BY; Jiang, Hui-Ying HY; Zhang, Jin J; Dong, Xiao-Ping XP

Publication Date: 2011

Variant appearance in text: CJD: G114V

PubMed Link: 21904617

Variant Present in the following documents:

• Main text
• pone.0024231.pdf

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The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP.

Prion

Chen, Cao C; Shi, Qi Q; Tian, Chan C; Li, Qing Q; Zhou, Wei W; Gao, Chen C; Han, Jun J; Dong, Xiao-Ping XP

Publication Date: 2011

Variant appearance in text: CJD: G114V

PubMed Link: 21791975

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells.

Plos One

Wang, Xin X; Shi, Qi Q; Xu, Kun K; Gao, Chen C; Chen, Cao C; Li, Xiao-Li XL; Wang, Gui-Rong GR; Tian, Chan C; Han, Jun J; Dong, Xiao-Ping XP

Publication Date: 2011-01-27

Variant appearance in text: CJD: G114V

PubMed Link: 21298055

Variant Present in the following documents:

• pone.0014602.pdf

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