PRNP c.392G>T ;(p.G131V)

Variant ID: 20-4680258-G-T

NM_000311.3(PRNP):c.392G>T;(p.G131V)

This variant was identified in 41 publications

View GRCh38 version.




Publications:


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: G131V
PubMed Link: 35519320
Variant Present in the following documents:
  • RA-009-C9RA01507H.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: G131V
PubMed Link: 35493933
Variant Present in the following documents:
  • fnagi-14-830602.pdf
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The Clinical Spectrum of Young Onset Dementia Points to Its Stochastic Origins.

Journal Of Alzheimer'S Disease Reports
Panegyres, Peter K PK
Publication Date: 2021

Variant appearance in text: PRNP: G131V
PubMed Link: 34632303
Variant Present in the following documents:
  • Main text
  • adr-5-adr210309.pdf
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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: G131V
PubMed Link: 34128081
Variant Present in the following documents:
  • 401_2021_Article_2336.pdf
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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: G131V
PubMed Link: 33542378
Variant Present in the following documents:
  • 41598_2021_Article_82647.pdf
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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: G131V
PubMed Link: 33276687
Variant Present in the following documents:
  • Main text
  • ijms-21-09208.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: G131V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: G131V
PubMed Link: 32728168
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1126.pdf
  • 42003_2020_1126_MOESM5_ESM.pdf
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A novel PRNP-G131R variant associated with familial prion disease.

Neurology. Genetics
Alshaikh, Jumana T JT; Qin, Kefeng K; Zhao, Lili L; Mastrianni, James A JA
Publication Date: 2020-08

Variant appearance in text: PRNP: G131V
PubMed Link: 32637633
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: G131V
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: PRNP: G131V
PubMed Link: 32560489
Variant Present in the following documents:
  • Main text
  • cells-09-01480.pdf
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The Quest for Cellular Prion Protein Functions in the Aged and Neurodegenerating Brain.

Cells
Gavín, Rosalina R; Lidón, Laia L; Ferrer, Isidre I; Del Río, José Antonio JA
Publication Date: 2020-03-02

Variant appearance in text: PRNP: G131V
PubMed Link: 32131451
Variant Present in the following documents:
  • cells-09-00591.pdf
View BVdb publication page



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: G131V
PubMed Link: 31871824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transmissibility versus Pathogenicity of Self-Propagating Protein Aggregates.

Viruses
Caughey, Byron B; Kraus, Allison A
Publication Date: 2019-11-09

Variant appearance in text: PRNP: G131V
PubMed Link: 31717531
Variant Present in the following documents:
  • viruses-11-01044.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: Gly131Val
PubMed Link: 31340582
Variant Present in the following documents:
  • Main text
  • ijms-20-03606.pdf
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Comparison of conventional, amplification and bio-assay detection methods for a chronic wasting disease inoculum pool.

Plos One
McNulty, Erin E; Nalls, Amy V AV; Mellentine, Samuel S; Hughes, Erin E; Pulscher, Laura L; Hoover, Edward A EA; Mathiason, Candace K CK
Publication Date: 2019

Variant appearance in text: CJD: G131V
PubMed Link: 31071138
Variant Present in the following documents:
  • pone.0216621.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: G131V
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: G131V
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: G131V
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: PRNP: G131V
PubMed Link: 30588685
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural basis for the complete resistance of the human prion protein mutant G127V to prion disease.

Scientific Reports
Zheng, Zhen Z; Zhang, Meilan M; Wang, Yongheng Y; Ma, Rongsheng R; Guo, Chenyun C; Feng, Liubin L; Wu, Jihui J; Yao, Hongwei H; Lin, Donghai D
Publication Date: 2018-09-04

Variant appearance in text: CJD: G131V
PubMed Link: 30181558
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: G131V
PubMed Link: 30147320
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G131V
PubMed Link: 30109268
Variant Present in the following documents:
  • Main text
  • NG2018007617.pdf
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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: PRNP: G131V
PubMed Link: 29458424
Variant Present in the following documents:
  • Main text
  • 40478_2018_Article_516.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: G131V
PubMed Link: 27943639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activation of the unfolded protein response and granulovacuolar degeneration are not common features of human prion pathology.

Acta Neuropathologica Communications
Wiersma, Vera I VI; van Hecke, Wim W; Scheper, Wiep W; van Osch, Martijn A J MA; Hermsen, Will J M WJ; Rozemuller, Annemieke J M AJ; Hoozemans, Jeroen J M JJ
Publication Date: 2016-10-28

Variant appearance in text: PRNP: G131V
PubMed Link: 27793194
Variant Present in the following documents:
  • Main text
  • 40478_2016_Article_383.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: G131V
PubMed Link: 26645475
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G131V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



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: PRNP: G131V
PubMed Link: 24851016
Variant Present in the following documents:
  • jkms-29-623.pdf
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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: G131V
PubMed Link: 24324497
Variant Present in the following documents:
  • Main text
  • IJCB2013-150952.pdf
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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: Gly131Val
PubMed Link: 23357826
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of prion protein aggregation in neurotoxicity.

International Journal Of Molecular Sciences
Corsaro, Alessandro A; Thellung, Stefano S; Villa, Valentina V; Nizzari, Mario M; Florio, Tullio T
Publication Date: 2012

Variant appearance in text: CJD: G131V
PubMed Link: 22942726
Variant Present in the following documents:
  • Main text
  • ijms-13-08648.pdf
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Role of prion protein aggregation in neurotoxicity.

International Journal Of Molecular Sciences
Corsaro, Alessandro A; Thellung, Stefano S; Villa, Valentina V; Nizzari, Mario M; Florio, Tullio T
Publication Date: 2012

Variant appearance in text: CJD: G131V
PubMed Link: 22942726
Variant Present in the following documents:
  • Main text
  • ijms-13-08648.pdf
View BVdb publication page



Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.

Plos One
Jansen, Casper C; Parchi, Piero P; Capellari, Sabina S; Ibrahim-Verbaas, Carla A CA; Schuur, Maaike M; Strammiello, Rosaria R; Corrado, Patrizia P; Bishop, Matthew T MT; van Gool, Willem A WA; Verbeek, Marcel M MM; Baas, Frank F; van Saane, Wesley W; Spliet, Wim G M WG; Jansen, Gerard H GH; van Duijn, Cornelia M CM; Rozemuller, Annemieke J M AJ
Publication Date: 2012

Variant appearance in text: PRNP: G131V
PubMed Link: 22558438
Variant Present in the following documents:
  • Main text
  • pone.0036333.pdf
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Diverse effects on the native β-sheet of the human prion protein due to disease-associated mutations.

Biochemistry
Chen, Wei W; van der Kamp, Marc W MW; Daggett, Valerie V
Publication Date: 2010-11-16

Variant appearance in text: PRNP: G131V
PubMed Link: 20949975
Variant Present in the following documents:
  • Main text
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Crystallographic studies of prion protein (PrP) segments suggest how structural changes encoded by polymorphism at residue 129 modulate susceptibility to human prion disease.

The Journal Of Biological Chemistry
Apostol, Marcin I MI; Sawaya, Michael R MR; Cascio, Duilio D; Eisenberg, David D
Publication Date: 2010-09-24

Variant appearance in text: CJD: G131V
PubMed Link: 20685658
Variant Present in the following documents:
  • Main text
  • zbc29671.pdf
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De novo mammalian prion synthesis.

Prion
Benetti, Federico F; Legname, Giuseppe G
Publication Date: 2009

Variant appearance in text: CJD: G131V
PubMed Link: 19887900
Variant Present in the following documents:
  • Main text
View BVdb publication page



The consequences of pathogenic mutations to the human prion protein.

Protein Engineering, Design & Selection : Peds
van der Kamp, Marc W MW; Daggett, Valerie V
Publication Date: 2009-08

Variant appearance in text: CJD: G131V
PubMed Link: 19602567
Variant Present in the following documents:
  • Main text
View BVdb publication page



Selective processing and metabolism of disease-causing mutant prion proteins.

Plos Pathogens
Ashok, Aarthi A; Hegde, Ramanujan S RS
Publication Date: 2009-06

Variant appearance in text: CJD: G131V
PubMed Link: 19543376
Variant Present in the following documents:
  • ppat.1000479.pdf
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Prion protein biosynthesis and its emerging role in neurodegeneration.

Trends In Biochemical Sciences
Chakrabarti, Oishee O; Ashok, Aarthi A; Hegde, Ramanujan S RS
Publication Date: 2009-06

Variant appearance in text: PRNP: Gly131Val
PubMed Link: 19447626
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms 'curly' intracellular aggregates.

Journal Of Molecular Neuroscience : Mn
Gu, Yaping Y; Verghese, Susamma S; Bose, Sharmila S; Mohan, Maradumane M; Singh, Neena N
Publication Date: 2007

Variant appearance in text: PRNP: G131V
PubMed Link: 17873292
Variant Present in the following documents:
  • Main text
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Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations.

The American Journal Of Pathology
Piccardo, P P; Liepnieks, J J JJ; William, A A; Dlouhy, S R SR; Farlow, M R MR; Young, K K; Nochlin, D D; Bird, T D TD; Nixon, R R RR; Ball, M J MJ; DeCarli, C C; Bugiani, O O; Tagliavini, F F; Benson, M D MD; Ghetti, B B
Publication Date: 2001-06

Variant appearance in text: CJD: G131V
PubMed Link: 11395398
Variant Present in the following documents:
  • Main text
View BVdb publication page