Publications:

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Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction.

Plos Genetics

Foliaki, Simote T ST; Smith, Anna A; Schwarz, Benjamin B; Bohrnsen, Eric E; Bosio, Catharine M CM; Williams, Katie K; Orrú, Christina D CD; Lachenauer, Hailey H; Groveman, Bradley R BR; Haigh, Cathryn L CL

Publication Date: 2023-01

Variant appearance in text: PRNP: Y218N

PubMed Link: 36656833

Variant Present in the following documents:

• Main text
• pgen.1010565.pdf

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Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.

Alzheimer'S Research & Therapy

Chen, Zhongyun Z; Chu, Min M; Liu, Li L; Zhang, Jing J; Kong, Yu Y; Xie, Kexin K; Cui, Yue Y; Ye, Hong H; Li, Junjie J; Wang, Lin L; Wu, Liyong L

Publication Date: 2022-06-29

Variant appearance in text: PRNP: Y218N

PubMed Link: 35768878

Variant Present in the following documents:

• Main text
• 13195_2022_Article_1033.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: Y218N

PubMed Link: 35493933

Variant Present in the following documents:

• fnagi-14-830602.pdf

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Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.

Journal Of Neurology

Eraña, Hasier H; San Millán, Beatriz B; Díaz-Domínguez, Carlos M CM; Charco, Jorge M JM; Rodríguez, Rosa R; Viéitez, Irene I; Pereda, Arrate A; Yañez, Rosa R; Geijo, Mariví M; Navarro, Carmen C; Perez de Nanclares, Guiomar G; Teijeira, Susana S; Castilla, Joaquín J

Publication Date: 2022-08

Variant appearance in text: PRNP: Y218N

PubMed Link: 35294616

Variant Present in the following documents:

• 415_2022_Article_11051.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: PRNP: Y218N

PubMed Link: 35288744

Variant Present in the following documents:

• Main text

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Human Brain Organoids as an In Vitro Model System of Viral Infectious Diseases.

Frontiers In Immunology

Su, Xuan X; Yue, Peng P; Kong, Jing J; Xu, Xin X; Zhang, Yu Y; Cao, Wenjing W; Fan, Yuxin Y; Liu, Meixiao M; Chen, Jingjing J; Liu, Aihua A; Bao, Fukai F

Publication Date: 2021

Variant appearance in text: CJD: Y218N

PubMed Link: 35087520

Variant Present in the following documents:

• Main text
• fimmu-12-792316.pdf

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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: Y218N

PubMed Link: 34663460

Variant Present in the following documents:

• Main text
• 13195_2021_Article_912.pdf

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Cerebral organoids as a new model for prion disease.

Plos Pathogens

Groveman, Bradley R BR; Smith, Anna A; Williams, Katie K; Haigh, Cathryn L CL

Publication Date: 2021-07

Variant appearance in text: PRNP: Y218N

PubMed Link: 34288977

Variant Present in the following documents:

• Main text
• ppat.1009747.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: Y218N

PubMed Link: 34128081

Variant Present in the following documents:

• 401_2021_Article_2336.pdf

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Tau Exon 10 Inclusion by PrPC through Downregulating GSK3β Activity.

International Journal Of Molecular Sciences

Lidón, Laia L; Llaó-Hierro, Laura L; Nuvolone, Mario M; Aguzzi, Adriano A; Ávila, Jesús J; Ferrer, Isidro I; Del Río, José Antonio JA; Gavín, Rosalina R

Publication Date: 2021-05-20

Variant appearance in text: PRNP: Y218N

PubMed Link: 34065232

Variant Present in the following documents:

• Main text
• ijms-22-05370.pdf

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Current and future applications of induced pluripotent stem cell-based models to study pathological proteins in neurodegenerative disorders.

Molecular Psychiatry

de Rus Jacquet, Aurélie A; Denis, Hélèna L HL; Cicchetti, Francesca F; Alpaugh, Melanie M

Publication Date: 2021-07

Variant appearance in text: PRNP: Y218N

PubMed Link: 33495544

Variant Present in the following documents:

• Main text

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From Cell Culture to Organoids-Model Systems for Investigating Prion Strain Characteristics.

Biomolecules

Pineau, Hailey H; Sim, Valerie L VL

Publication Date: 2021-01-14

Variant appearance in text: CJD: Y218N

PubMed Link: 33466947

Variant Present in the following documents:

• Main text

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On the role of the cellular prion protein in the uptake and signaling of pathological aggregates in neurodegenerative diseases.

Prion

Legname, Giuseppe G; Scialò, Carlo C

Publication Date: 2020-12

Variant appearance in text: PRNP: Y218N

PubMed Link: 33345731

Variant Present in the following documents:

• KPRN_14_1854034.pdf

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Potential of Microfluidics and Lab-on-Chip Platforms to Improve Understanding of "prion-like" Protein Assembly and Behavior.

Frontiers In Bioengineering And Biotechnology

Del Rio, Jose A JA; Ferrer, Isidre I

Publication Date: 2020

Variant appearance in text: CJD: Y218N

PubMed Link: 33015021

Variant Present in the following documents:

• fbioe-08-570692.pdf

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Pathogenic Prion Protein Isoforms Are Not Present in Cerebral Organoids Generated from Asymptomatic Donors Carrying the E200K Mutation Associated with Familial Prion Disease.

Pathogens (Basel, Switzerland)

Foliaki, Simote T ST; Groveman, Bradley R BR; Yuan, Jue J; Walters, Ryan R; Zhang, Shulin S; Tesar, Paul P; Zou, Wenquan W; Haigh, Cathryn L CL

Publication Date: 2020-06-18

Variant appearance in text: PRNP: Y218N

PubMed Link: 32570796

Variant Present in the following documents:

• Main text

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In vitro Models of Neurodegenerative Diseases.

Frontiers In Cell And Developmental Biology

Slanzi, Anna A; Iannoto, Giulia G; Rossi, Barbara B; Zenaro, Elena E; Constantin, Gabriela G

Publication Date: 2020

Variant appearance in text: PRNP: Y218N

PubMed Link: 32528949

Variant Present in the following documents:

• Main text
• fcell-08-00328.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: Y218N

PubMed Link: 32131451

Variant Present in the following documents:

• cells-09-00591.pdf

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Atomic insights into the effects of pathological mutants through the disruption of hydrophobic core in the prion protein.

Scientific Reports

Lee, Juhwan J; Chang, Iksoo I; Yu, Wookyung W

Publication Date: 2019-12-16

Variant appearance in text: CJD: Y218N

PubMed Link: 31844149

Variant Present in the following documents:

• Main text

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Using our mini-brains: cerebral organoids as an improved cellular model for human prion disease.

Neural Regeneration Research

Groveman, Bradley R BR; Walters, Ryan R; Haigh, Cathryn L CL

Publication Date: 2020-06

Variant appearance in text: CJD: Y218N

PubMed Link: 31823872

Variant Present in the following documents:

• Main text
• NRR-15-1019.pdf

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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: Tyr218Asn

PubMed Link: 31447551

Variant Present in the following documents:

• Main text
• cia-14-1387.pdf

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Sporadic Creutzfeldt-Jakob disease prion infection of human cerebral organoids.

Acta Neuropathologica Communications

Groveman, Bradley R BR; Foliaki, Simote T ST; Orru, Christina D CD; Zanusso, Gianluigi G; Carroll, James A JA; Race, Brent B; Haigh, Cathryn L CL

Publication Date: 2019-06-14

Variant appearance in text: CJD: Y218N

PubMed Link: 31196223

Variant Present in the following documents:

• Main text
• 40478_2019_Article_742.pdf

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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: Y218N

PubMed Link: 30877692

Variant Present in the following documents:

• Main text
• jcn-15-184.pdf

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Gerstmann-Sträussler-Scheinker Disease Presenting with Atypical Parkinsonism, but Typical Magnetic Resonance Imaging Findings of Prion Disease.

Movement Disorders Clinical Practice

Ribosa-Nogué, Roser R; Pagonabarraga, Javier J; Gomez-Anson, Beatriz B; Granell-Moreno, Esther E; Sánchez-Valle, Raquel R; Kulisevsky, Jaime J

Publication Date: 2016

Variant appearance in text: PRNP: Y218N

PubMed Link: 30713902

Variant Present in the following documents:

• Main text

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An autopsy report of three kindred in a Gerstmann-Sträussler-Scheinker disease P105L family with a special reference to prion protein, tau, and beta-amyloid.

Brain And Behavior

Ishizawa, Keisuke K; Mitsufuji, Takashi T; Shioda, Kei K; Kobayashi, Atsushi A; Komori, Takashi T; Nakazato, Yoshihiko Y; Kitamoto, Tetsuyuki T; Araki, Nobuo N; Yamamoto, Toshimasa T; Sasaki, Atsushi A

Publication Date: 2018-10

Variant appearance in text: PRNP: Y218N

PubMed Link: 30240140

Variant Present in the following documents:

• Main text
• BRB3-8-e01117.pdf

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Sisyphus in Neverland.

Journal Of Alzheimer'S Disease : Jad

Ferrer, Isidro I

Publication Date: 2018

Variant appearance in text: PRNP: Y218N

PubMed Link: 29154280

Variant Present in the following documents:

• jad-62-jad170609.pdf

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Generation of a new infectious recombinant prion: a model to understand Gerstmann-Sträussler-Scheinker syndrome.

Scientific Reports

Elezgarai, Saioa R SR; Fernández-Borges, Natalia N; Eraña, Hasier H; Sevillano, Alejandro M AM; Charco, Jorge M JM; Harrathi, Chafik C; Saá, Paula P; Gil, David D; Kong, Qingzhong Q; Requena, Jesús R JR; Andréoletti, Olivier O; Castilla, Joaquín J

Publication Date: 2017-08-29

Variant appearance in text: PRNP: Y218N

PubMed Link: 28851967

Variant Present in the following documents:

• Main text

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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: Y218N

PubMed Link: 28778873

Variant Present in the following documents:

• Main text

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iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.

Molecular Neurobiology

Matamoros-Angles, Andreu A; Gayosso, Lucía Mayela LM; Richaud-Patin, Yvonne Y; di Domenico, Angelique A; Vergara, Cristina C; Hervera, Arnau A; Sousa, Amaya A; Fernández-Borges, Natalia N; Consiglio, Antonella A; Gavín, Rosalina R; López de Maturana, Rakel R; Ferrer, Isidro I; López de Munain, Adolfo A; Raya, Ángel Á; Castilla, Joaquín J; Sánchez-Pernaute, Rosario R; Del Río, José Antonio JA

Publication Date: 2018-04

Variant appearance in text: CJD: Y218N

PubMed Link: 28466265

Variant Present in the following documents:

• Main text
• 12035_2017_Article_506.pdf

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A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.

Neurosciences (Riyadh, Saudi Arabia)

Long, Ling L; Cai, Xiaodong X; Shu, Yaqing Y; Lu, Zhengqi Z

Publication Date: 2017-04

Variant appearance in text: PRNP: Y218N

PubMed Link: 28416787

Variant Present in the following documents:

• Main text
• Neurosciences-22-138.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: Y218N

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism-dystonia.

Movement Disorders Clinical Practice

Umeh, Chizoba C CC; Kalakoti, Piyush P; Greenberg, Michael K MK; Notari, Silvio S; Cohen, Yvonne Y; Gambetti, Pierluigi P; Oblak, Adrian L AL; Ghetti, Bernardino B; Mari, Zoltan Z

Publication Date: 2016

Variant appearance in text: PRNP: Y218N

PubMed Link: 27617269

Variant Present in the following documents:

• Main text

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Different misfolding mechanisms converge on common conformational changes: human prion protein pathogenic mutants Y218N and E196K.

Prion

Cheng, Chin Jung CJ; Daggett, Valerie V

Publication Date: 2014

Variant appearance in text: CJD: Y218N

PubMed Link: 24509603

Variant Present in the following documents:

• Main text

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

Molecules (Basel, Switzerland)

Giachin, Gabriele G; Biljan, Ivana I; Ilc, Gregor G; Plavec, Janez J; Legname, Giuseppe G

Publication Date: 2013-08-07

Variant appearance in text: CJD: Y218N

PubMed Link: 23966072

Variant Present in the following documents:

• molecules-18-09451.pdf

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Prion disease: a tale of folds and strains.

Brain Pathology (Zurich, Switzerland)

Kretzschmar, Hans H; Tatzelt, Jörg J

Publication Date: 2013-05

Variant appearance in text: PRNP: Y218N

PubMed Link: 23587138

Variant Present in the following documents:

• Main text

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An overview of human prion diseases.

Virology Journal

Imran, Muhammad M; Mahmood, Saqib S

Publication Date: 2011-12-24

Variant appearance in text: PRNP: Y218N

PubMed Link: 22196171

Variant Present in the following documents:

• Main text
• 1743-422X-8-559.pdf

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Squirrel monkeys (Saimiri sciureus) infected with the agent of bovine spongiform encephalopathy develop tau pathology.

Journal Of Comparative Pathology

Piccardo, P P; Cervenak, J J; Yakovleva, O O; Gregori, L L; Pomeroy, K K; Cook, A A; Muhammad, F S FS; Seuberlich, T T; Cervenakova, L L; Asher, D M DM

Publication Date: 2012-07

Variant appearance in text: PRNP: Y218N

PubMed Link: 22018806

Variant Present in the following documents:

• Main text

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