PRNP c.607G>A ;(p.V203I)

Variant ID: 20-4680473-G-A

NM_000311.3(PRNP):c.607G>A;(p.V203I)

This variant was identified in 68 publications

View GRCh38 version.




Publications:


Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt-Jakob Disease.

Viruses
Kong, Yu Y; Chen, Zhongyun Z; Zhang, Jing J; Wang, Xue X; Wu, Liyong L
Publication Date: 2023-04-29

Variant appearance in text: CJD: V203I
PubMed Link: 37243178
Variant Present in the following documents:
  • Main text
  • viruses-15-01092.pdf
View BVdb publication page



High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.

Neurology. Genetics
Murley, Alexander G AG; Nie, Yu Y; Golder, Zoe Z; Keogh, Michael John MJ; Smith, Colin C; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2023-02

Variant appearance in text: PRNP: V203I
PubMed Link: 36686280
Variant Present in the following documents:
  • NXG-2022-200057.pdf
View BVdb publication page



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: V203I
PubMed Link: 36674920
Variant Present in the following documents:
  • Main text
  • ijms-24-01405.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: PRNP: V203I
PubMed Link: 36614069
Variant Present in the following documents:
  • Main text
  • ijms-24-00625.pdf
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: PRNP: V203I
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



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: PRNP: V203I
PubMed Link: 36285115
Variant Present in the following documents:
  • Main text
  • ccdcw-4-33-723.pdf
View BVdb publication page



Creutzfeldt-Jakob Disease Incidence, South Korea, 2001-2019.

Emerging Infectious Diseases
Kim, Yong-Chan YC; Jeong, Byung-Hoon BH
Publication Date: 2022-09

Variant appearance in text: PRNP: V203I
PubMed Link: 35997603
Variant Present in the following documents:
  • Main text
  • 21-2050.pdf
  • 21-2050-Techapp-s1.pdf
View BVdb publication page



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: V203I
PubMed Link: 35888666
Variant Present in the following documents:
  • Main text
  • medicina-58-00947.pdf
View BVdb publication page



A longitudinal 18F-FDG PET/MRI study in asymptomatic stage of genetic Creutzfeldt-Jakob disease linked to G114V mutation.

Journal Of Neurology
Chu, Min M; Chen, Zhongyun Z; Nie, Binbin B; Liu, Li L; Xie, Kexin K; Cui, Yue Y; Chen, Kewei K; Rosa-Neto, Pedro P; Wu, Liyong L
Publication Date: 2022-11

Variant appearance in text: CJD: V203I
PubMed Link: 35864212
Variant Present in the following documents:
  • 415_2022_Article_11288.pdf
View BVdb publication page



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: V203I
PubMed Link: 35294674
Variant Present in the following documents:
  • Main text
  • 726_2022_Article_3153.pdf
View BVdb publication page



Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

Prion
Shan, Yuheng Y; Zhang, Jiatang J; Cen, Yuying Y; Xu, Xiaojiao X; Tan, Ruishu R; Zhao, Jiahua J; Yu, Shengyuan S
Publication Date: 2022-12

Variant appearance in text: PRNP: V203I
PubMed Link: 35130121
Variant Present in the following documents:
  • Main text
  • KPRN_16_2031719.pdf
View BVdb publication page



Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

Prion
Shan, Yuheng Y; Zhang, Jiatang J; Cen, Yuying Y; Xu, Xiaojiao X; Tan, Ruishu R; Zhao, Jiahua J; Yu, Shengyuan S
Publication Date: 2022-12

Variant appearance in text: PRNP: V203I
PubMed Link: 35130121
Variant Present in the following documents:
  • Main text
  • KPRN_16_2031719.pdf
View BVdb publication page



Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.

Bmj Open
Shi, Qi Q; Xiao, Kang K; Chen, Cao C; Zhou, Wei W; Gao, Li-Ping LP; Wu, Yue-Zhang YZ; Wang, Yuan Y; Hu, Chao C; Gao, Chen C; Dong, Xiao-Ping XP
Publication Date: 2021-11-15

Variant appearance in text: PRNP: V203I
PubMed Link: 34782343
Variant Present in the following documents:
  • bmjopen-2021-054551.draft_revisions.pdf
  • bmjopen-2021-054551.pdf
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: PRNP: V203I
PubMed Link: 34663460
Variant Present in the following documents:
  • Main text
  • 13195_2021_Article_912.pdf
View BVdb publication page



Genetic prion disease-related mutation E196K displays a novel amyloid fibril structure revealed by cryo-EM.

Science Advances
Wang, Li-Qiang LQ; Zhao, Kun K; Yuan, Han-Ye HY; Li, Xiang-Ning XN; Dang, Hai-Bin HB; Ma, Yeyang Y; Wang, Qiang Q; Wang, Chen C; Sun, Yunpeng Y; Chen, Jie J; Li, Dan D; Zhang, Delin D; Yin, Ping P; Liu, Cong C; Liang, Yi Y
Publication Date: 2021-09-10

Variant appearance in text: CJD: V203I
PubMed Link: 34516876
Variant Present in the following documents:
  • sciadv.abg9676.pdf
View BVdb publication page



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: V203I
PubMed Link: 34324063
Variant Present in the following documents:
  • Main text
  • 401_2021_2350_MOESM1_ESM.pdf
  • 401_2021_Article_2350.pdf
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: V203I
PubMed Link: 33919317
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: V203I
PubMed Link: 33807776
Variant Present in the following documents:
  • Main text
  • pathogens-10-00305.pdf
View BVdb publication page



The Cellular Prion Protein: A Promising Therapeutic Target for Cancer.

International Journal Of Molecular Sciences
Go, Gyeongyun G; Lee, Sang Hun SH
Publication Date: 2020-12-02

Variant appearance in text: PRNP: V203I
PubMed Link: 33276687
Variant Present in the following documents:
  • Main text
  • ijms-21-09208.pdf
View BVdb publication page



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: V203I
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids.

Acta Neuropathologica Communications
Candelise, Niccolò N; Baiardi, Simone S; Franceschini, Alessia A; Rossi, Marcello M; Parchi, Piero P
Publication Date: 2020-07-25

Variant appearance in text: CJD: V203I
PubMed Link: 32711575
Variant Present in the following documents:
  • Main text
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PRNP: V203I
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



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: V203I
PubMed Link: 32560489
Variant Present in the following documents:
  • Main text
View BVdb publication page



First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.

International Journal Of Molecular Sciences
Won, Sae-Young SY; Kim, Yong-Chan YC; Jeong, Byung-Hoon BH
Publication Date: 2020-06-15

Variant appearance in text: PRNP: V203I
PubMed Link: 32549191
Variant Present in the following documents:
  • Main text
  • ijms-21-04246.pdf
View BVdb publication page



Detection of Pathognomonic Biomarker PrPSc and the Contribution of Cell Free-Amplification Techniques to the Diagnosis of Prion Diseases.

Biomolecules
Eraña, Hasier H; Charco, Jorge M JM; González-Miranda, Ezequiel E; García-Martínez, Sandra S; López-Moreno, Rafael R; Pérez-Castro, Miguel A MA; Díaz-Domínguez, Carlos M CM; García-Salvador, Adrián A; Castilla, Joaquín J
Publication Date: 2020-03-19

Variant appearance in text: CJD: V203I
PubMed Link: 32204429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.

Bmc Genomics
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2019-12-03

Variant appearance in text: PRNP: V203I
PubMed Link: 31795947
Variant Present in the following documents:
  • Main text
  • 12864_2019_Article_6315.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: V203I
PubMed Link: 31551692
Variant Present in the following documents:
  • Main text
  • fnins-13-00934.pdf
View BVdb publication page



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: Val203Ile
PubMed Link: 31340582
Variant Present in the following documents:
  • Main text
  • ijms-20-03606.pdf
View BVdb publication page



The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins.

Acta Neuropathologica Communications
Rossi, Marcello M; Kai, Hideaki H; Baiardi, Simone S; Bartoletti-Stella, Anna A; Carlà, Benedetta B; Zenesini, Corrado C; Capellari, Sabina S; Kitamoto, Tetsuyuki T; Parchi, Piero P
Publication Date: 2019-04-08

Variant appearance in text: CJD: V203I
PubMed Link: 30961668
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_706.pdf
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: V203I
PubMed Link: 30934971
Variant Present in the following documents:
  • Main text
  • viruses-11-00309.pdf
View BVdb publication page



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: V203I
PubMed Link: 30656214
Variant Present in the following documents:
  • txd-5-e416.pdf
View BVdb publication page



Recent advances in the histo-molecular pathology of human prion disease.

Brain Pathology (Zurich, Switzerland)
Baiardi, Simone S; Rossi, Marcello M; Capellari, Sabina S; Parchi, Piero P
Publication Date: 2019-03

Variant appearance in text: CJD: V203I
PubMed Link: 30588685
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: CJD: V203I
PubMed Link: 30147320
Variant Present in the following documents:
  • Main text
  • ndt-14-2067.pdf
View BVdb publication page



Report and literature review on two cases with different kinds of Creutzfeldt-Jakob disease.

Experimental And Therapeutic Medicine
Tang, Chunhua C; Gao, Changyue C
Publication Date: 2018-01

Variant appearance in text: PRNP: V203I
PubMed Link: 29399090
Variant Present in the following documents:
  • Main text
  • etm-15-01-0854.pdf
View BVdb publication page



In Vitro Approach To Identify Key Amino Acids in Low Susceptibility of Rabbit Prion Protein to Misfolding.

Journal Of Virology
Eraña, Hasier H; Fernández-Borges, Natalia N; Elezgarai, Saioa R SR; Harrathi, Chafik C; Charco, Jorge M JM; Chianini, Francesca F; Dagleish, Mark P MP; Ortega, Gabriel G; Millet, Óscar Ó; Castilla, Joaquín J
Publication Date: 2017-12-15

Variant appearance in text: CJD: V203I
PubMed Link: 28978705
Variant Present in the following documents:
  • Main text
View BVdb publication page



In Silico Studies in Drug Research Against Neurodegenerative Diseases.

Current Neuropharmacology
Makhouri, Farahnaz Rezaei FR; Ghasemi, Jahan B JB
Publication Date: 2018

Variant appearance in text: CJD: V203I
PubMed Link: 28831921
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein astrogliopathies in human neurodegenerative diseases and aging.

Brain Pathology (Zurich, Switzerland)
Kovacs, Gabor G GG; Lee, Virginia M VM; Trojanowski, John Q JQ
Publication Date: 2017-09

Variant appearance in text: PRNP: V203I
PubMed Link: 28805003
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: V203I
PubMed Link: 28778873
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prion Diagnosis: Application of Real-Time Quaking-Induced Conversion.

Biomed Research International
Kang, Hae-Eun HE; Mo, Youngwon Y; Abd Rahim, Raihah R; Lee, Hye-Mi HM; Ryou, Chongsuk C
Publication Date: 2017

Variant appearance in text: CJD: V203I
PubMed Link: 28596963
Variant Present in the following documents:
  • Main text
  • BMRI2017-5413936.pdf
View BVdb publication page



Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels.

Acta Neuropathologica
Lattanzio, Francesca F; Abu-Rumeileh, Samir S; Franceschini, Alessia A; Kai, Hideaki H; Amore, Giulia G; Poggiolini, Ilaria I; Rossi, Marcello M; Baiardi, Simone S; McGuire, Lynne L; Ladogana, Anna A; Pocchiari, Maurizio M; Green, Alison A; Capellari, Sabina S; Parchi, Piero P
Publication Date: 2017-04

Variant appearance in text: CJD: V203I
PubMed Link: 28205010
Variant Present in the following documents:
  • Main text
  • 401_2017_Article_1683.pdf
View BVdb publication page