Publications:

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Prion Diseases in Animals and Zoonotic Potential.

Food Safety (Tokyo, Japan)

JM Torres, A Marin-Moreno, O Andreoletti, JC Espinosa, V Beringue, P Aguilar, N Fernandez-Borges

Publication Date: 2016-12

Variant appearance in text: PRNP: Met129Val

PMID: 32231913

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A case report of genetic prion disease with two different PRNP variants.

Molecular Genetics & Genomic Medicine

M Piazza, TW Prior, PS Khalsa, B Appleby

Publication Date: 2020-01-17

Variant appearance in text: PRNP: 385A>G

PMID: 31953922

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Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.

Frontiers In Genetics

R da Silva Francisco Junior, C Dos Santos Ferreira, JC Santos E Silva, D Terra Machado, Y Côrtes Martins, V Ramos, G Simões Carnivali, AB Garcia, E Medina-Acosta

Publication Date: 2019

Variant appearance in text: rs1799990

PMID: 31850058

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Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats.

Scientific Reports

SK Kim, YC Kim, SY Won, BH Jeong

Publication Date: 2019-10-25

Variant appearance in text: PRNP: M129V

PMID: 31653880

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The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients

S Hossain, MA Beydoun, MF Kuczmarski, S Tajuddin, MK Evans, AB Zonderman

Publication Date: 2019-09-11

Variant appearance in text: rs1799990

PMID: 31514322

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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

L Bernardi, AC Bruni

Publication Date: 2019-07-23

Variant appearance in text: PRNP: Met129Val

PMID: 31340582

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Significant association of 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) rs3846662 and sirtuin 1 (SIRT1) rs7895833 and apolipoprotein E (APOE) hypermethylation with mild cognitive impairment (MCI).

Medicine

T Zou, Y Duan, X Zhou, W Chen, X Ying, G Liu, Y Zhao, M Zhu, A Pari, K Alimu, H Miao, K Kabinur, L Zhang, Q Wang, S Duan

Publication Date: 2019-07

Variant appearance in text: rs1799990

PMID: 31305452

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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

VV Giau, E Bagyinszky, YS Yang, YC Youn, SSA An, SY Kim

Publication Date: 2019-06-10

Variant appearance in text: PRNP: Met129Val

PMID: 31182772

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Genetics and epigenetic factors of Wilson disease.

Annals Of Translational Medicine

V Medici, JM LaSalle

Publication Date: 2019-04

Variant appearance in text: PRNP: M129V

PMID: 31179295

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

Neurology

EV Minikel, SM Vallabh, MC Orseth, JP Brandel, S Haïk, JL Laplanche, I Zerr, P Parchi, S Capellari, J Safar, J Kenny, JC Fong, LT Takada, C Ponto, P Hermann, T Knipper, C Stehmann, T Kitamoto, R Ae, T Hamaguchi, N Sanjo, T Tsukamoto, H Mizusawa, SJ Collins, R Chiesa, I Roiter, J de Pedro-Cuesta, M Calero, MD Geschwind, M Yamada, Y Nakamura, S Mead

Publication Date: 2019-07-09

Variant appearance in text: PRNP: M129V

PMID: 31171647

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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

VV Giau, V Senanarong, E Bagyinszky, SSA An, S Kim

Publication Date: 2019-03-26

Variant appearance in text: PRNP: M129V

PMID: 30917570

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Pressure Reveals Unique Conformational Features in Prion Protein Fibril Diversity.

Scientific Reports

J Torrent, D Martin, S Noinville, Y Yin, M Doumic, M Moudjou, V Béringue, H Rezaei

Publication Date: 2019-02-26

Variant appearance in text: PRNP: M129V

PMID: 30808892

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Next Generation Sequencing Analysis in Early Onset Dementia Patients.

Journal Of Alzheimer'S Disease : Jad

C Bonvicini, C Scassellati, L Benussi, E Di Maria, C Maj, M Ciani, S Fostinelli, A Mega, M Bocchetta, G Lanzi, E Giacopuzzi, S Ferraboli, M Pievani, V Fedi, CA Defanti, S Giliani, , GB Frisoni, R Ghidoni, M Gennarelli

Publication Date: 2019

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 30530974

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Development of an AmpliSeqTM Panel for Next-Generation Sequencing of a Set of Genetic Predictors of Persisting Pain.

Frontiers In Pharmacology

D Kringel, MA Kaunisto, C Lippmann, E Kalso, J Lötsch

Publication Date: 2018

Variant appearance in text: rs1799990

PMID: 30283335

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Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Neuropsychiatric Disease And Treatment

E Bagyinszky, VV Giau, YC Youn, SSA An, S Kim

Publication Date: 2018

Variant appearance in text: PRNP: M129V

PMID: 30147320

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Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto's encephalopathy.

Bmj Case Reports

JM Stevens, MR Levine, AE Constantino, GK Motamedi

Publication Date: 2018-07-15

Variant appearance in text: PRNP: Met129Val

PMID: 30012679

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Parkinsonism Associated with Pathological 123I-FP-CIT SPECT (DaTSCAN) Results as the Initial Manifestation of Sporadic Creutzfeldt-Jakob Disease.

Case Reports In Neurological Medicine

S Carrasco García de León, JP Cabello, R Ortiz, J Vaamonde

Publication Date: 2018

Variant appearance in text: CJD: M129V

PMID: 29955403

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Fatal Familial Insomnia Initially Developing Parkinsonism Mimicking Dementia with Lewy Bodies.

Internal Medicine (Tokyo, Japan)

T Fukuoka, Y Nakazato, M Yamamoto, A Miyake, T Mitsufuji, T Yamamoto

Publication Date: 2018-09-15

Variant appearance in text: PRNP: M129V

PMID: 29709939

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Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

Journal Of Clinical Pathology

Z Chyra Kufova, T Sevcikova, J Januska, P Vojta, A Boday, P Vanickova, J Filipova, K Growkova, T Jelinek, M Hajduch, R Hajek

Publication Date: 2018-08

Variant appearance in text: PRNP: Met129Val; rs1799990

PMID: 29455155

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Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.

Neuropathology And Applied Neurobiology

T Patel, KJ Brookes, J Turton, S Chaudhury, T Guetta-Baranes, R Guerreiro, J Bras, D Hernandez, A Singleton, PT Francis, J Hardy, K Morgan

Publication Date: 2018-08

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 29181857

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Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1.

Journal Of Alzheimer'S Disease : Jad

KA Jellinger

Publication Date: 2018

Variant appearance in text: PRNP: M129V

PMID: 28984582

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Insights into Mechanisms of Transmission and Pathogenesis from Transgenic Mouse Models of Prion Diseases.

Methods In Molecular Biology (Clifton, N.J.)

JA Moreno, GC Telling

Publication Date: 2017

Variant appearance in text: CJD: M129V

PMID: 28861793

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Genetic PrP Prion Diseases.

Cold Spring Harbor Perspectives In Biology

MO Kim, LT Takada, K Wong, SA Forner, MD Geschwind

Publication Date: 2018-05-01

Variant appearance in text: rs1799990

PMID: 28778873

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Polymorphism at 129 dictates metastable conformations of the human prion protein N-terminal β-sheet.

Chemical Science

SA Paz, E Vanden-Eijnden, CF Abrams

Publication Date: 2017-02-01

Variant appearance in text: CJD: M129V

PMID: 28451263

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The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.

Plos One

M Beręsewicz, A Boratyńska-Jasińska, Ł Charzewski, M Kawalec, D Kabzińska, A Kochański, KA Krzyśko, B Zabłocka

Publication Date: 2017

Variant appearance in text: PRNP: 385A>G; Met129Val

PMID: 28076385

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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

LT Takada, MO Kim, RW Cleveland, K Wong, SA Forner, II Gala, JC Fong, MD Geschwind

Publication Date: 2017-01

Variant appearance in text: rs1799990

PMID: 27943639

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Cellular Prion Protein Combined with Galectin-3 and -6 Affects the Infectivity Titer of an Endogenous Retrovirus Assayed in Hippocampal Neuronal Cells.

Plos One

BH Kim, HY Shin, JJ Goto, RI Carp, EK Choi, YS Kim

Publication Date: 2016

Variant appearance in text: PRNP: M129V

PMID: 27936017

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Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China.

Scientific Reports

W Zhang, B Jiao, T Xiao, C Pan, X Liu, L Zhou, B Tang, L Shen

Publication Date: 2016-12-02

Variant appearance in text: PRNP: M129V

PMID: 27910931

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Analysis of the prion protein gene in multiple system atrophy.

Neurobiology Of Aging

V Chelban, A Manole, L Pihlstrøm, L Schottlaender, S Efthymiou, E OConnor, WG Meissner, JL Holton, H Houlden

Publication Date: 2017-01

Variant appearance in text: PRNP: 385A>G; rs1799990

PMID: 27793473

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Epidemiological characteristics of human prion diseases.

Infectious Diseases Of Poverty

C Chen, XP Dong

Publication Date: 2016-06-02

Variant appearance in text: CJD: M129V

PMID: 27251305

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The Priority position paper: Protecting Europe's food chain from prions.

Prion

JR Requena, K Kristensson, C Korth, C Zurzolo, M Simmons, P Aguilar-Calvo, A Aguzzi, O Andreoletti, SL Benestad, R Böhm, K Brown, B Calgua, JA Del Río, JC Espinosa, R Girones, S Godsave, LE Hoelzle, MR Knittler, F Kuhn, G Legname, P Laeven, N Mabbott, E Mitrova, A Müller-Schiffmann, M Nuvolone, PJ Peters, A Raeber, K Roth, M Schmitz, B Schroeder, T Sonati, L Stitz, A Taraboulos, JM Torres, ZX Yan, I Zerr

Publication Date: 2016-05-03

Variant appearance in text: CJD: M129V

PMID: 27220820

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Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome.

Clinical Ophthalmology (Auckland, N.Z.)

MP Giannakopoulos, AG Antonacopoulou, AE Kottorou, HP Kalofonos, SP Gartaganis

Publication Date: 2016

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 27217717

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Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum.

Neurology. Genetics

KK Mano, T Matsukawa, J Mitsui, H Ishiura, S Tokushige, Y Takahashi, NS Sato, FK Nakamoto, Y Ichikawa, Y Nagashima, Y Terao, J Shimizu, M Hamada, Y Uesaka, G Oyama, G Ogawa, J Yoshimura, K Doi, S Morishita, S Tsuji, J Goto

Publication Date: 2016-02

Variant appearance in text: PRNP: 385A>G; M129V

PMID: 27066585

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Protective V127 prion variant prevents prion disease by interrupting the formation of dimer and fibril from molecular dynamics simulations.

Scientific Reports

S Zhou, D Shi, X Liu, H Liu, X Yao

Publication Date: 2016-02-24

Variant appearance in text: CJD: M129V

PMID: 26906032

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Quantifying prion disease penetrance using large population control cohorts.

Science Translational Medicine

EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, JF Sathirapongsasuti, CY McLean, JY Tung, LP Yu, P Gambetti, J Blevins, S Zhang, Y Cohen, W Chen, M Yamada, T Hamaguchi, N Sanjo, H Mizusawa, Y Nakamura, T Kitamoto, SJ Collins, A Boyd, RG Will, R Knight, C Ponto, I Zerr, TF Kraus, S Eigenbrod, A Giese, M Calero, J de Pedro-Cuesta, S Haïk, JL Laplanche, E Bouaziz-Amar, JP Brandel, S Capellari, P Parchi, A Poleggi, A Ladogana, AH O'Donnell-Luria, KJ Karczewski, JL Marshall, M Boehnke, M Laakso, KL Mohlke, A Kähler, K Chambert, S McCarroll, PF Sullivan, CM Hultman, SM Purcell, P Sklar, SJ van der Lee, A Rozemuller, C Jansen, A Hofman, R Kraaij, JG van Rooij, MA Ikram, AG Uitterlinden, CM van Duijn, , MJ Daly, DG MacArthur

Publication Date: 2016-01-20

Variant appearance in text: PRNP: M129V

PMID: 26791950

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[PSI(+)] turns 50.

Prion

MF Tuite, GL Staniforth, BS Cox

Publication Date: 2015

Variant appearance in text: CJD: M129V

PMID: 26645632

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Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

Genomics Data

SE John, G Thareja, P Hebbar, K Behbehani, TA Thanaraj, O Alsmadi

Publication Date: 2015-03

Variant appearance in text: rs1799990

PMID: 26484159

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Genetics of Prion Disease in Cattle.

Bioinformatics And Biology Insights

BM Murdoch, GK Murdoch

Publication Date: 2015

Variant appearance in text: rs1799990

PMID: 26462233

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A naturally occurring variant of the human prion protein completely prevents prion disease.

Nature

EA Asante, M Smidak, A Grimshaw, R Houghton, A Tomlinson, A Jeelani, T Jakubcova, S Hamdan, A Richard-Londt, JM Linehan, S Brandner, M Alpers, J Whitfield, S Mead, JD Wadsworth, J Collinge

Publication Date: 2015-06-25

Variant appearance in text: CJD: M129V

PMID: 26061765

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A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk.

Plos One

P Sanchez-Juan, MT Bishop, GG Kovacs, M Calero, YS Aulchenko, A Ladogana, A Boyd, V Lewis, C Ponto, O Calero, A Poleggi, Á Carracedo, SJ van der Lee, T Ströbel, F Rivadeneira, A Hofman, S Haïk, O Combarros, J Berciano, AG Uitterlinden, SJ Collins, H Budka, JP Brandel, JL Laplanche, M Pocchiari, I Zerr, RS Knight, RG Will, CM van Duijn

Publication Date: 2014

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 25918841

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Genome-wide association study of behavioural and psychiatric features in human prion disease.

Translational Psychiatry

AG Thompson, J Uphill, J Lowe, MC Porter, A Lukic, C Carswell, P Rudge, A MacKay, J Collinge, S Mead

Publication Date: 2015-04-21

Variant appearance in text: rs1799990

PMID: 25897833

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Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.

Journal Of Alzheimer'S Disease : Jad

J Denvir, S Neitch, J Fan, RM Niles, G Boskovic, BG Schreurs, DA Primerano, DL Alkon

Publication Date: 2015

Variant appearance in text: PRNP: 385A>G; Met129Val; rs1799990

PMID: 25812849

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Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Bmc Genomics

G Thareja, SE John, P Hebbar, K Behbehani, TA Thanaraj, O Alsmadi

Publication Date: 2015-02-18

Variant appearance in text: PRNP: Met129Val; rs1799990

PMID: 25765185

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Multiple system atrophy: the application of genetics in understanding etiology.

Clinical Autonomic Research : Official Journal Of The Clinical Autonomic Research Society

M Federoff, LV Schottlaender, H Houlden, A Singleton

Publication Date: 2015-02

Variant appearance in text: PRNP: M129V

PMID: 25687905

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Multiple system atrophy: genetic or epigenetic?

Experimental Neurobiology

E Sturm, N Stefanova

Publication Date: 2014-12

Variant appearance in text: PRNP: M129V

PMID: 25548529

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Alzheimer's disease and prion protein.

Intractable & Rare Diseases Research

J Zhou, B Liu

Publication Date: 2013-05

Variant appearance in text: PRNP: M129V

PMID: 25343100

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Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

Molecular Neurodegeneration

M van Blitterswijk, B Mullen, A Wojtas, MG Heckman, NN Diehl, MC Baker, M DeJesus-Hernandez, PH Brown, ME Murray, GY Hsiung, H Stewart, AM Karydas, E Finger, A Kertesz, EH Bigio, S Weintraub, M Mesulam, KJ Hatanpaa, CL White, M Neumann, MJ Strong, TG Beach, ZK Wszolek, C Lippa, R Caselli, L Petrucelli, KA Josephs, JE Parisi, DS Knopman, RC Petersen, IR Mackenzie, WW Seeley, LT Grinberg, BL Miller, KB Boylan, NR Graff-Radford, BF Boeve, DW Dickson, R Rademakers

Publication Date: 2014-09-20

Variant appearance in text: rs1799990

PMID: 25239657

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Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Neurobiology Of Aging

C Sassi, R Guerreiro, R Gibbs, J Ding, MK Lupton, C Troakes, S Al-Sarraj, M Niblock, JM Gallo, J Adnan, R Killick, KS Brown, C Medway, J Lord, J Turton, J Bras, , K Morgan, JF Powell, A Singleton, J Hardy

Publication Date: 2014-12

Variant appearance in text: PRNP: 385A>G; M129V; rs1799990

PMID: 25104557

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Nonsense mutation in PRNP associated with clinical Alzheimer's disease.

Neurobiology Of Aging

R Guerreiro, J Brás, A Wojtas, R Rademakers, J Hardy, N Graff-Radford

Publication Date: 2014-11

Variant appearance in text: PRNP: M129V

PMID: 24958194

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Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.

Bmc Medical Genetics

N Forbes, S Goodwin, K Woodward, DG Morgan, L Brady, MB Coulthart, MA Tarnopolsky

Publication Date: 2014-02-20

Variant appearance in text: PRNP: 385A>G; Met129Val

PMID: 24555712

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Is the prevalent human prion protein 129M/V mutation a living fossil from a Paleolithic panzootic superprion pandemic?

Prion

S Nyström, P Hammarström

Publication Date: 2014

Variant appearance in text: PRNP: M129V

PMID: 24398570

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Rapidly progressive dementia with thalamic degeneration and peculiar cortical prion protein immunoreactivity, but absence of proteinase K resistant PrP: a new disease entity?

Acta Neuropathologica Communications

GG Kovacs, A Peden, S Weis, R Höftberger, AS Berghoff, H Yull, T Ströbel, S Koppi, R Katzenschlager, D Langenscheidt, H Assar, E Zaruba, A Gröner, T Voigtländer, G Puska, E Hametner, A Grams, A Muigg, M Knoflach, L László, JW Ironside, MW Head, H Budka

Publication Date: 2013-11-11

Variant appearance in text: CJD: M129V

PMID: 24252716

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A proposal of new diagnostic pathway for fatal familial insomnia.

Journal Of Neurology, Neurosurgery, And Psychiatry

A Krasnianski, P Sanchez Juan, C Ponto, M Bartl, U Heinemann, D Varges, WJ Schulz-Schaeffer, HA Kretzschmar, I Zerr

Publication Date: 2014-06

Variant appearance in text: PRNP: M129V

PMID: 24249784

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A novel prion disease associated with diarrhea and autonomic neuropathy.

The New England Journal Of Medicine

S Mead, S Gandhi, J Beck, D Caine, D Gallujipali, C Carswell, H Hyare, S Joiner, H Ayling, T Lashley, JM Linehan, H Al-Doujaily, B Sharps, T Revesz, MK Sandberg, MM Reilly, M Koltzenburg, A Forbes, P Rudge, S Brandner, JD Warren, JDF Wadsworth, NW Wood, JL Holton, J Collinge

Publication Date: 2013-11-14

Variant appearance in text: PRNP: M129V

PMID: 24224623

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Impact of methionine oxidation as an initial event on the pathway of human prion protein conversion.

Prion

MI Elmallah, U Borgmeyer, C Betzel, L Redecke

Publication Date: 2013

Variant appearance in text: CJD: M129V

PMID: 24121542

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Discriminant analysis of prion sequences for prediction of susceptibility.

Experimental & Molecular Medicine

JH Lee, SE Bae, S Jung, I Ahn, HS Son

Publication Date: 2013-10-11

Variant appearance in text: PRNP: M129V

PMID: 24113272

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Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease.

Bmc Medical Genetics

MT Bishop, P Sanchez-Juan, RS Knight

Publication Date: 2013-09-12

Variant appearance in text: rs1799990

PMID: 24028506

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Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Molecules (Basel, Switzerland)

G Giachin, I Biljan, G Ilc, J Plavec, G Legname

Publication Date: 2013-08-07

Variant appearance in text: PRNP: M129V

PMID: 23966072

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

DN Cooper, M Krawczak, C Polychronakos, C Tyler-Smith, H Kehrer-Sawatzki

Publication Date: 2013-10

Variant appearance in text: PRNP: 385A>G; Met129Val; rs1799990

PMID: 23820649

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Alzheimer's amyloid-β oligomers rescue cellular prion protein induced tau reduction via the Fyn pathway.

Acs Chemical Neuroscience

RJ Chen, WW Chang, YC Lin, PL Cheng, YR Chen

Publication Date: 2013-09-18

Variant appearance in text: PRNP: M129V

PMID: 23805846

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Analyses of the survival time and the influencing factors of chinese patients with prion diseases based on the surveillance data from 2008-2011.

Plos One

C Chen, JC Wang, Q Shi, W Zhou, XM Zhang, J Zhang, C Tian, C Gao, XP Dong

Publication Date: 2013

Variant appearance in text: PRNP: M129V

PMID: 23671608

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Genetics of prion diseases.

Current Opinion In Genetics & Development

SE Lloyd, S Mead, J Collinge

Publication Date: 2013-06

Variant appearance in text: PRNP: M129V

PMID: 23518043

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The prion protein M129V polymorphism: longevity and cognitive impairment among Polish centenarians.

Prion

E Golanska, M Sieruta, E Corder, SM Gresner, A Pfeffer, M Chodakowska-Zebrowska, TM Sobow, I Klich, M Mossakowska, A Szybinska, M Barcikowska, PP Liberski

Publication Date: 2013

Variant appearance in text: PRNP: M129V

PMID: 23406923

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Amyloid beta precursor protein and prion protein have a conserved interaction affecting cell adhesion and CNS development.

Plos One

DM Kaiser, M Acharya, PL Leighton, H Wang, N Daude, S Wohlgemuth, B Shi, WT Allison

Publication Date: 2012

Variant appearance in text: PRNP: M129V

PMID: 23236467

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Genetics of temporal lobe epilepsy: a review.

Epilepsy Research And Treatment

A Salzmann, A Malafosse

Publication Date: 2012

Variant appearance in text: PRNP: Met129Val

PMID: 22957248

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A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease.

Plos One

O Calero, MJ Bullido, J Clarimón, A Frank-García, P Martínez-Martín, A Lleó, MJ Rey, I Sastre, A Rábano, J de Pedro-Cuesta, I Ferrer, M Calero

Publication Date: 2012

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 22952813

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Genetic variability of the gene cluster CALHM 1-3 in sporadic Creutzfeldt-Jakob disease.

Prion

O Calero, MJ Bullido, J Clarimón, R Hortigüela, A Frank-García, P Martínez-Martín, A Lleó, MJ Rey, I Sastre, A Rábano, J de Pedro-Cuesta, I Ferrer, M Calero

Publication Date: 2012

Variant appearance in text: rs1799990

PMID: 22874670

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Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

Neurobiology Of Aging

L Bernardi, F Frangipane, N Smirne, R Colao, G Puccio, SA Curcio, M Mirabelli, R Maletta, M Anfossi, M Gallo, S Geracitano, ME Conidi, R Di Lorenzo, A Clodomiro, C Cupidi, S Marzano, F Comito, V Valenti, MA Zirilli, M Ghani, Z Xi, C Sato, D Moreno, A Borelli, RA Leone, P St George-Hyslop, E Rogaeva, AC Bruni

Publication Date: 2012-12

Variant appearance in text: PRNP: M129V

PMID: 22819134

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Multiple substitutions of methionine 129 in human prion protein reveal its importance in the amyloid fibrillation pathway.

The Journal Of Biological Chemistry

S Nyström, R Mishra, S Hornemann, A Aguzzi, KP Nilsson, P Hammarström

Publication Date: 2012-07-27

Variant appearance in text: PRNP: M129V

PMID: 22669942

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Genotype patterns and characteristics of PRNP in the Korean population.

Prion

S Moe Lee, Y Ran Ju, BY Choi, J Wook Hyeon, J Sun Park, C Kyeong Kim, S Yeon Kim

Publication Date: 2012

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 22561193

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Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

Human Molecular Genetics

S Mead, J Uphill, J Beck, M Poulter, T Campbell, J Lowe, G Adamson, H Hummerich, N Klopp, IM Rückert, HE Wichmann, D Azazi, V Plagnol, WH Pako, J Whitfield, MP Alpers, J Whittaker, DJ Balding, I Zerr, H Kretzschmar, J Collinge

Publication Date: 2012-04-15

Variant appearance in text: rs1799990

PMID: 22210626

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An overview of human prion diseases.

Virology Journal

M Imran, S Mahmood

Publication Date: 2011-12-24

Variant appearance in text: PRNP: M129V

PMID: 22196171

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Structural and mechanistic commonalities of amyloid-β and the prion protein.

Prion

B Da Costa Dias, K Jovanovic, D Gonsalves, SF Weiss

Publication Date: 2011

Variant appearance in text: PRNP: Met129Val

PMID: 21862871

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Insoluble cellular prion protein and its association with prion and Alzheimer diseases.

Prion

WQ Zou, X Zhou, J Yuan, X Xiao

Publication Date: 2011

Variant appearance in text: CJD: M129V

PMID: 21847014

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Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases.

Plos One

O Calero, MJ Bullido, J Clarimón, A Frank-García, P Martínez-Martín, A Lleó, MJ Rey, A Rábano, R Blesa, T Gómez-Isla, F Valdivieso, J de Pedro-Cuesta, I Ferrer, M Calero

Publication Date: 2011

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 21799773

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Genetic players in multiple system atrophy: unfolding the nature of the beast.

Neurobiology Of Aging

S Stemberger, SW Scholz, AB Singleton, GK Wenning

Publication Date: 2011-10

Variant appearance in text: PRNP: M129V

PMID: 21601954

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A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease.

Bmc Medical Genetics

P Sanchez-Juan, MT Bishop, EA Croes, RS Knight, RG Will, CM van Duijn, JC Manson

Publication Date: 2011-05-22

Variant appearance in text: PRNP: M129V

PMID: 21600043

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Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis.

International Journal Of Molecular Epidemiology And Genetics

J Webster, EM Reiman, VL Zismann, KD Joshipura, JV Pearson, D Hu-Lince, MJ Huentelman, DW Craig, KD Coon, T Beach, KC Rohrer, AS Zhao, D Leung, L Bryden, L Marlowe, M Kaleem, D Mastroeni, A Grover, J Rogers, R Heun, F Jessen, H Kölsch, CB Heward, R Ravid, ML Hutton, S Melquist, RC Petersen, RJ Caselli, A Papassotiropoulos, DA Stephan, J Hardy, A Myers

Publication Date: 2010

Variant appearance in text: rs1799990

PMID: 21537449

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A case of Gerstmann-Sträussler-Scheinker disease with a novel six octapeptide repeat insertion.

Neuropathology And Applied Neurobiology

A Vital, JL Laplanche, JR Bastard, X Xiao, WQ Zou, C Vital

Publication Date: 2011-08

Variant appearance in text: rs1799990

PMID: 21426368

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The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

TS Rizzi, A Arias-Vasquez, N Rommelse, J Kuntsi, R Anney, P Asherson, J Buitelaar, T Banaschewski, R Ebstein, D Ruano, S Van der Sluis, CA Markunas, ME Garrett, AE Ashley-Koch, SH Kollins, AD Anastopoulos, NK Hansell, MJ Wright, GW Montgomery, NG Martin, SE Harris, G Davies, A Tenesa, DJ Porteous, JM Starr, IJ Deary, B St Pourcain, G Davey Smith, NJ Timpson, DM Evans, M Gill, A Miranda, F Mulas, RD Oades, H Roeyers, A Rothenberger, J Sergeant, E Sonuga-Barke, HC Steinhausen, E Taylor, SV Faraone, B Franke, D Posthuma

Publication Date: 2011-03

Variant appearance in text: rs1799990

PMID: 21302343

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The retinoic acid receptor beta (Rarb) region of Mmu14 is associated with prion disease incubation time in mouse.

Plos One

J Grizenkova, S Akhtar, J Collinge, SE Lloyd

Publication Date: 2010-12-06

Variant appearance in text: CJD: M129V

PMID: 21151910

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Between destiny and disease: genetics and molecular pathways of human central nervous system aging.

Progress In Neurobiology

C Glorioso, E Sibille

Publication Date: 2011-02

Variant appearance in text: PRNP: met129val

PMID: 21130140

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Intermediate phenotypes identify divergent pathways to Alzheimer's disease.

Plos One

JM Shulman, LB Chibnik, C Aubin, JA Schneider, DA Bennett, PL De Jager

Publication Date: 2010-06-21

Variant appearance in text: rs1799990

PMID: 20574532

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Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever.

European Journal Of Neurology

SA Appel, J Chapman, E Kahana, H Rosenmann, I Prohovnik, E Pras, H Reznik-Wolf, OS Cohen

Publication Date: 2010-06-01

Variant appearance in text: CJD: M129V

PMID: 20113338

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PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

Bmc Medical Genetics

MT Bishop, C Pennington, CA Heath, RG Will, RS Knight

Publication Date: 2009-12-26

Variant appearance in text: PRNP: M129V

PMID: 20035629

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Cellular prion protein mediates the toxicity of beta-amyloid oligomers: implications for Alzheimer disease.

Archives Of Neurology

HB Nygaard, SM Strittmatter

Publication Date: 2009-11

Variant appearance in text: PRNP: M129V

PMID: 19901162

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Allelic discrimination of genetic human prion diseases by real-time PCR genotyping.

Prion

O Calero, R Hortigüela, C Albo, J de Pedro-Cuesta, M Calero

Publication Date: 2009

Variant appearance in text: PRNP: M129V

PMID: 19684471

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Frequent missense and insertion/deletion polymorphisms in the ovine Shadoo gene parallel species-specific variation in PrP.

Plos One

N Daude, S Wohlgemuth, E Rogaeva, AH Farid, M Heaton, D Westaway

Publication Date: 2009-08-06

Variant appearance in text: PRNP: M129V

PMID: 19657386

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Shadoo (Sprn) and prion disease incubation time in mice.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

SE Lloyd, J Grizenkova, H Pota, J Collinge

Publication Date: 2009-06

Variant appearance in text: PRNP: M129V

PMID: 19513788

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Prion protein expression and processing in human mononuclear cells: the impact of the codon 129 prion gene polymorphism.

Plos One

C Segarra, S Lehmann, J Coste

Publication Date: 2009-06-04

Variant appearance in text: CJD: M129V

PMID: 19495414

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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proceedings Of The National Academy Of Sciences Of The United States Of America

LA Hindorff, P Sethupathy, HA Junkins, EM Ramos, JP Mehta, FS Collins, TA Manolio

Publication Date: 2009-06-09

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 19474294

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Left handed beta helix models for mammalian prion fibrils.

Prion

KC Kunes, SC Clark, DL Cox, RR Singh

Publication Date: 2008

Variant appearance in text: CJD: M129V

PMID: 19098440

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Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.

The Lancet. Neurology

S Mead, M Poulter, J Uphill, J Beck, J Whitfield, TE Webb, T Campbell, G Adamson, P Deriziotis, SJ Tabrizi, H Hummerich, C Verzilli, MP Alpers, JC Whittaker, J Collinge

Publication Date: 2009-01

Variant appearance in text: rs1799990

PMID: 19081515

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Surveillance for Creutzfeldt-Jakob disease in China from 2006 to 2007.

Bmc Public Health

Q Shi, C Gao, W Zhou, BY Zhang, JM Chen, C Tian, HY Jiang, J Han, NJ Xiang, XF Wang, YJ Gao, XP Dong

Publication Date: 2008-10-18

Variant appearance in text: PRNP: M129V

PMID: 18928564

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Genetic susceptibility, evolution and the kuru epidemic.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

S Mead, J Whitfield, M Poulter, P Shah, J Uphill, J Beck, T Campbell, H Al-Dujaily, H Hummerich, MP Alpers, J Collinge

Publication Date: 2008-11-27

Variant appearance in text: PRNP: M129V

PMID: 18849290

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Assessment of Alzheimer's disease case-control associations using family-based methods.

Neurogenetics

BM Schjeide, MB McQueen, K Mullin, J DiVito, MF Hogan, M Parkinson, B Hooli, C Lange, D Blacker, RE Tanzi, L Bertram

Publication Date: 2009-02

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 18830724

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Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

Neurogenetics

JS Kauwe, J Wang, K Mayo, JC Morris, AM Fagan, DM Holtzman, AM Goate

Publication Date: 2009-02

Variant appearance in text: rs1799990

PMID: 18813964

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Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease.

American Journal Of Epidemiology

FK Kavvoura, MB McQueen, MJ Khoury, RE Tanzi, L Bertram, JP Ioannidis

Publication Date: 2008-10-15

Variant appearance in text: PRNP: M129V; rs1799990

PMID: 18779388

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No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease.

Bmc Medical Genetics

P Sánchez-Juan, MT Bishop, A Green, C Giannattasio, A Arias-Vasquez, A Poleggi, RS Knight, CM van Duijn

Publication Date: 2007-12-11

Variant appearance in text: PRNP: M129V

PMID: 18072964

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Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study.

Journal Of Medical Genetics

C Vollmert, O Windl, W Xiang, A Rosenberger, I Zerr, HE Wichmann, H Bickeböller, T Illig, , HA Kretzschmar

Publication Date: 2006-10

Variant appearance in text: PRNP: M129V

PMID: 17047093

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000379440.4	c.385A>G	p.Met129Val	missense_variant	2/2	-
ENST00000424424.1	c.385A>G	p.Met129Val	missense_variant	2/2	-
ENST00000430350.2	c.385A>G	p.Met129Val	missense_variant	2/2	-
ENST00000457586.1	c.385A>G	p.Met129Val	missense_variant	2/2	-
NM_000311.5	c.385A>G	p.Met129Val	missense_variant	2/2	-
NM_001080121.3	c.385A>G	p.Met129Val	missense_variant	2/2	-
NM_001080122.3	c.385A>G	p.Met129Val	missense_variant	2/2	-
NM_001080123.3	c.385A>G	p.Met129Val	missense_variant	2/2	-
NM_001271561.3	c.*74A>G	-	3_prime_UTR_variant	2/2	-
NM_183079.4	c.385A>G	p.Met129Val	missense_variant	2/2	-