Publications:

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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: Q227X

PubMed Link: 35768878

Variant Present in the following documents:

• Main text
• 13195_2022_Article_1033.pdf

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Neurodegenerative Proteinopathies in the Proteoform Spectrum-Tools and Challenges.

International Journal Of Molecular Sciences

Noor, Aneeqa A; Zafar, Saima S; Zerr, Inga I

Publication Date: 2021-01-22

Variant appearance in text: CJD: Q227X

PubMed Link: 33499319

Variant Present in the following documents:

• ijms-22-01085.pdf

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Characterization of Anchorless Human PrP With Q227X Stop Mutation Linked to Gerstmann-Sträussler-Scheinker Syndrome In Vivo and In Vitro.

Molecular Neurobiology

Shen, Pingping P; Dang, Johnny J; Wang, Zerui Z; Zhang, Weiguanliu W; Yuan, Jue J; Lang, Yue Y; Ding, Mingxuan M; Mitchell, Marcus M; Kong, Qingzhong Q; Feng, Jiachun J; Rozemuller, Annemiek J M AJM; Cui, Li L; Petersen, Robert B RB; Zou, Wen-Quan WQ

Publication Date: 2021-01

Variant appearance in text: CJD: Q227X

PubMed Link: 32889654

Variant Present in the following documents:

• Main text
• 12035_2020_Article_2098.pdf

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Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells

Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2020-06-17

Variant appearance in text: PRNP: Q227*

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.

Acta Neuropathologica

Aguilar-Calvo, Patricia P; Sevillano, Alejandro M AM; Bapat, Jaidev J; Soldau, Katrin K; Sandoval, Daniel R DR; Altmeppen, Hermann C HC; Linsenmeier, Luise L; Pizzo, Donald P DP; Geschwind, Michael D MD; Sanchez, Henry H; Appleby, Brian S BS; Cohen, Mark L ML; Safar, Jiri G JG; Edland, Steven D SD; Glatzel, Markus M; Nilsson, K Peter R KPR; Esko, Jeffrey D JD; Sigurdson, Christina J CJ

Publication Date: 2020-03

Variant appearance in text: PRNP: Q227X

PubMed Link: 31673874

Variant Present in the following documents:

• Main text

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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: Gln227Ter

PubMed Link: 31447551

Variant Present in the following documents:

• Main text
• cia-14-1387.pdf

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

Viruses

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

Publication Date: 2019-03-29

Variant appearance in text: CJD: Q227X

PubMed Link: 30934971

Variant Present in the following documents:

• Main text
• viruses-11-00309.pdf

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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: Q227X

PubMed Link: 30588685

Variant Present in the following documents:

• Main text

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

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: CJD: Q227*

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.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: Q227X

PubMed Link: 29458424

Variant Present in the following documents:

• Main text

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Prion Proteins Without the Glycophosphatidylinositol Anchor: Potential Biomarkers in Neurodegenerative Diseases.

Biomarker Insights

Kovač, Valerija V; Čurin Šerbec, Vladka V

Publication Date: 2018

Variant appearance in text: PRNP: Q227X

PubMed Link: 29449775

Variant Present in the following documents:

• Main text
• 10.1177_1177271918756648.pdf

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Genetic human prion disease modelled in PrP transgenic Drosophila.

The Biochemical Journal

Thackray, Alana M AM; Cardova, Alzbeta A; Wolf, Hanna H; Pradl, Lydia L; Vorberg, Ina I; Jackson, Walker S WS; Bujdoso, Raymond R

Publication Date: 2017-09-20

Variant appearance in text: CJD: Q227X

PubMed Link: 28814578

Variant Present in the following documents:

• Main text

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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: Q227X

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: Q227X

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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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: Q227X

PubMed Link: 27793194

Variant Present in the following documents:

• Main text
• 40478_2016_Article_383.pdf

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Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy.

Journal Of Alzheimer'S Disease : Jad

Fong, Jamie C JC; Rojas, Julio C JC; Bang, Jee J; Legati, Andrea A; Rankin, Katherine P KP; Forner, Sven S; Miller, Zachary A ZA; Karydas, Anna M AM; Coppola, Giovanni G; Grouse, Carrie K CK; Ralph, Jeffrey J; Miller, Bruce L BL; Geschwind, Michael D MD

Publication Date: 2017

Variant appearance in text: PRNP: Q227X

PubMed Link: 27716661

Variant Present in the following documents:

• Main text

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Towards authentic transgenic mouse models of heritable PrP prion diseases.

Acta Neuropathologica

Watts, Joel C JC; Giles, Kurt K; Bourkas, Matthew E C ME; Patel, Smita S; Oehler, Abby A; Gavidia, Marta M; Bhardwaj, Sumita S; Lee, Joanne J; Prusiner, Stanley B SB

Publication Date: 2016-10

Variant appearance in text: CJD: Q227X

PubMed Link: 27350609

Variant Present in the following documents:

• Main text

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

Neurobiology Of Aging

Guerreiro, Rita R; Brás, José J; Wojtas, Aleksandra A; Rademakers, Rosa R; Hardy, John J; Graff-Radford, Neill N

Publication Date: 2014-11

Variant appearance in text: PRNP: Q227*

PubMed Link: 24958194

Variant Present in the following documents:

• Main text

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Gerstmann-Sträussler-Scheinker disease and "anchorless prion protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease.

The Journal Of Biological Chemistry

Zanusso, Gianluigi G; Fiorini, Michele M; Ferrari, Sergio S; Meade-White, Kimberly K; Barbieri, Ilaria I; Brocchi, Emiliana E; Ghetti, Bernardino B; Monaco, Salvatore S

Publication Date: 2014-02-21

Variant appearance in text: CJD: Q227X

PubMed Link: 24398683

Variant Present in the following documents:

• Main text

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Unusual cerebral vascular prion protein amyloid distribution in scrapie-infected transgenic mice expressing anchorless prion protein.

Acta Neuropathologica Communications

Rangel, Alejandra A; Race, Brent B; Klingeborn, Mikael M; Striebel, James J; Chesebro, Bruce B

Publication Date: 2013-06-19

Variant appearance in text: CJD: Q227X

PubMed Link: 24252347

Variant Present in the following documents:

• Main text
• 2051-5960-1-25.pdf

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Defining the conformational features of anchorless, poorly neuroinvasive prions.

Plos Pathogens

Bett, Cyrus C; Kurt, Tim D TD; Lucero, Melanie M; Trejo, Margarita M; Rozemuller, Annemieke J AJ; Kong, Qingzhong Q; Nilsson, K Peter R KP; Masliah, Eliezer E; Oldstone, Michael B MB; Sigurdson, Christina J CJ

Publication Date: 2013

Variant appearance in text: PRNP: Q227X

PubMed Link: 23637596

Variant Present in the following documents:

• Main text
• ppat.1003280.pdf

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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: CJD: Q227X

PubMed Link: 22558438

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: Q227X

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: Q227X

PubMed Link: 22018806

Variant Present in the following documents:

• Main text

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Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.

Annals Of Neurology

Jayadev, Suman S; Nochlin, David D; Poorkaj, Parvoneh P; Steinbart, Ellen J EJ; Mastrianni, James A JA; Montine, Thomas J TJ; Ghetti, Bernardino B; Schellenberg, Gerard D GD; Bird, Thomas D TD; Leverenz, James B JB

Publication Date: 2011-04

Variant appearance in text: PRNP: Q227X

PubMed Link: 21416485

Variant Present in the following documents:

• Main text

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Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

Acta Neuropathologica

Jansen, Casper C; Parchi, Piero P; Capellari, Sabina S; Vermeij, Ad J AJ; Corrado, Patrizia P; Baas, Frank F; Strammiello, Rosaria R; van Gool, Willem A WA; van Swieten, John C JC; Rozemuller, Annemieke J M AJ

Publication Date: 2010-02

Variant appearance in text: PRNP: Q227X

PubMed Link: 19911184

Variant Present in the following documents:

• Main text
• 401_2009_Article_609.pdf

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