Publications:

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Proteostasis unbalance in prion diseases: Mechanisms of neurodegeneration and therapeutic targets.

Frontiers In Neuroscience

Thellung, Stefano S; Corsaro, Alessandro A; Dellacasagrande, Irene I; Nizzari, Mario M; Zambito, Martina M; Florio, Tullio T

Publication Date: 2022

Variant appearance in text: CJD: H187R

PubMed Link: 36148145

Variant Present in the following documents:

• fnins-16-966019.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: H187R

PubMed Link: 35493933

Variant Present in the following documents:

• fnagi-14-830602.pdf

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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: H187R

PubMed Link: 35294674

Variant Present in the following documents:

• Main text
• 726_2022_Article_3153.pdf

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Extracellular Prion Protein Aggregates in Nine Gerstmann-Sträussler-Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data.

International Journal Of Molecular Sciences

Jankovska, Nikol N; Matej, Radoslav R; Olejar, Tomas T

Publication Date: 2021-12-10

Variant appearance in text: PRNP: H187R

PubMed Link: 34948096

Variant Present in the following documents:

• Main text
• ijms-22-13303.pdf

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Extracellular Prion Protein Aggregates in Nine Gerstmann-Sträussler-Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data.

International Journal Of Molecular Sciences

Jankovska, Nikol N; Matej, Radoslav R; Olejar, Tomas T

Publication Date: 2021-12-10

Variant appearance in text: PRNP: H187R

PubMed Link: 34948096

Variant Present in the following documents:

• Main text
• ijms-22-13303.pdf

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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: PRNP: H187R

PubMed Link: 34516876

Variant Present in the following documents:

• sciadv.abg9676.pdf

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Parkinson's Disease: A Prionopathy?

International Journal Of Molecular Sciences

Vascellari, Sarah S; Manzin, Aldo A

Publication Date: 2021-07-27

Variant appearance in text: CJD: H187R

PubMed Link: 34360787

Variant Present in the following documents:

• Main text
• ijms-22-08022.pdf

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Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases.

Scientific Reports

Mok, Tze How TH; Nihat, Akin A; Luk, Connie C; Sequeira, Danielle D; Batchelor, Mark M; Mead, Simon S; Collinge, John J; Jackson, Graham S GS

Publication Date: 2021-03-04

Variant appearance in text: PRNP: H187R

PubMed Link: 33664355

Variant Present in the following documents:

• Main text
• 41598_2021_Article_84527.pdf

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Cellular Prion Protein (PrPc): Putative Interacting Partners and Consequences of the Interaction.

International Journal Of Molecular Sciences

Miranzadeh Mahabadi, Hajar H; Taghibiglou, Changiz C

Publication Date: 2020-09-25

Variant appearance in text: PRNP: H187R

PubMed Link: 32992764

Variant Present in the following documents:

• Main text
• ijms-21-07058.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: H187R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PRNP: 560A>G; His187Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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A seven-residue deletion in PrP leads to generation of a spontaneous prion formed from C-terminal C1 fragment of PrP.

The Journal Of Biological Chemistry

Munoz-Montesino, Carola C; Larkem, Djabir D; Barbereau, Clément C; Igel-Egalon, Angélique A; Truchet, Sandrine S; Jacquet, Eric E; Nhiri, Naïma N; Moudjou, Mohammed M; Sizun, Christina C; Rezaei, Human H; Béringue, Vincent V; Dron, Michel M

Publication Date: 2020-10-09

Variant appearance in text: CJD: H187R

PubMed Link: 32788216

Variant Present in the following documents:

• Main text

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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: H187R

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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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: H187R

PubMed Link: 31871824

Variant Present in the following documents:

• Main text
• tre-09-712.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: His187Arg

PubMed Link: 31340582

Variant Present in the following documents:

• Main text
• ijms-20-03606.pdf

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Gerstmann-Sträussler-Scheinker disease revisited: accumulation of covalently-linked multimers of internal prion protein fragments.

Acta Neuropathologica Communications

Cracco, Laura L; Xiao, Xiangzhu X; Nemani, Satish K SK; Lavrich, Jody J; Cali, Ignazio I; Ghetti, Bernardino B; Notari, Silvio S; Surewicz, Witold K WK; Gambetti, Pierluigi P

Publication Date: 2019-05-29

Variant appearance in text: CJD: H187R

PubMed Link: 31142381

Variant Present in the following documents:

• Main text

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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: H187R

PubMed Link: 30877692

Variant Present in the following documents:

• Main text
• jcn-15-184.pdf

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Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.

Acta Neuropathologica Communications

Di Fede, Giuseppe G; Catania, Marcella M; Atzori, Cristiana C; Moda, Fabio F; Pasquali, Claudio C; Indaco, Antonio A; Grisoli, Marina M; Zuffi, Marta M; Guaita, Maria Cristina MC; Testi, Roberto R; Taraglio, Stefano S; Sessa, Maria M; Gusmaroli, Graziano G; Spinelli, Mariacarmela M; Salzano, Giulia G; Legname, Giuseppe G; Tarletti, Roberto R; Godi, Laura L; Pocchiari, Maurizio M; Tagliavini, Fabrizio F; Imperiale, Daniele D; Giaccone, Giorgio G

Publication Date: 2019-01-03

Variant appearance in text: PRNP: H187R

PubMed Link: 30606247

Variant Present in the following documents:

• Main text
• 40478_2018_Article_656.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: CJD: H187R

PubMed Link: 30588685

Variant Present in the following documents:

• Main text

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Attempt to Untangle the Prion-Like Misfolding Mechanism for Neurodegenerative Diseases.

International Journal Of Molecular Sciences

Sarnataro, Daniela D

Publication Date: 2018-10-09

Variant appearance in text: CJD: H187R

PubMed Link: 30304819

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: H187R

PubMed Link: 30240140

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: H187R

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.pdf

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Small Molecules Attenuate the Interplay between Conformational Fluctuations, Early Oligomerization and Amyloidosis of Alpha Synuclein.

Scientific Reports

Ghosh, Sumanta S; Kundu, Amrita A; Chattopadhyay, Krishnananda K

Publication Date: 2018-04-03

Variant appearance in text: CJD: H187R

PubMed Link: 29615762

Variant Present in the following documents:

• 41598_2018_Article_23718.pdf

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A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles.

Plos Pathogens

Mercer, Robert C C RCC; Daude, Nathalie N; Dorosh, Lyudmyla L; Fu, Ze-Lin ZL; Mays, Charles E CE; Gapeshina, Hristina H; Wohlgemuth, Serene L SL; Acevedo-Morantes, Claudia Y CY; Yang, Jing J; Cashman, Neil R NR; Coulthart, Michael B MB; Pearson, Dawn M DM; Joseph, Jeffrey T JT; Wille, Holger H; Safar, Jiri G JG; Jansen, Gerard H GH; Stepanova, Maria M; Sykes, Brian D BD; Westaway, David D

Publication Date: 2018-01

Variant appearance in text: PRNP: H187R

PubMed Link: 29338055

Variant Present in the following documents:

• Main text
• ppat.1006826.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PRNP: 560A>G; His187Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Detection and partial discrimination of atypical and classical bovine spongiform encephalopathies in cattle and primates using real-time quaking-induced conversion assay.

Plos One

Levavasseur, Etienne E; Biacabe, Anne-Gaëlle AG; Comoy, Emmanuel E; Culeux, Audrey A; Grznarova, Katarina K; Privat, Nicolas N; Simoneau, Steve S; Flan, Benoit B; Sazdovitch, Véronique V; Seilhean, Danielle D; Baron, Thierry T; Haïk, Stéphane S

Publication Date: 2017

Variant appearance in text: CJD: H187R

PubMed Link: 28231300

Variant Present in the following documents:

• Main text
• pone.0172428.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: H187R

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Misfolding leads the way to unraveling signaling pathways in the pathophysiology of prion diseases.

Prion

Puig, Berta B; Altmeppen, Hermann C HC; Glatzel, Markus M

Publication Date: 2016-11

Variant appearance in text: PRNP: H187R

PubMed Link: 27870599

Variant Present in the following documents:

• Main text

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Polyols (Glycerol and Ethylene glycol) mediated amorphous aggregate inhibition and secondary structure restoration of metalloproteinase-conalbumin (ovotransferrin).

International Journal Of Biological Macromolecules

Khan, Mohsin Vahid MV; Ishtikhar, Mohd M; Rabbani, Gulam G; Zaman, Masihuz M; Abdelhameed, Ali Saber AS; Khan, Rizwan Hasan RH

Publication Date: 2017-01

Variant appearance in text: CJD: H187R

PubMed Link: 27744055

Variant Present in the following documents:

• Main text
• main.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: H187R

PubMed Link: 26645475

Variant Present in the following documents:

• Main text

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Conformational instability of human prion protein upon residue modification: a molecular dynamics simulation study.

Excli Journal

Bamdad, Kourosh K; Naderi-Manesh, Hossein H; Baumgaertner, Artur A

Publication Date: 2014

Variant appearance in text: CJD: H187R

PubMed Link: 26417255

Variant Present in the following documents:

• Main text
• EXCLI-13-212.pdf

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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: H187R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains.

Plos Pathogens

Orrú, Christina D CD; Groveman, Bradley R BR; Raymond, Lynne D LD; Hughson, Andrew G AG; Nonno, Romolo R; Zou, Wenquan W; Ghetti, Bernardino B; Gambetti, Pierluigi P; Caughey, Byron B

Publication Date: 2015-06

Variant appearance in text: CJD: H187R

PubMed Link: 26086786

Variant Present in the following documents:

• Main text

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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: H187R

PubMed Link: 24851016

Variant Present in the following documents:

• jkms-29-623.pdf

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The therapeutic potential of chemical chaperones in protein folding diseases.

Prion

Cortez, Leonardo L; Sim, Valerie V

Publication Date: 2014

Variant appearance in text: CJD: H187R

PubMed Link: 24818993

Variant Present in the following documents:

• Main text

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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: H187R

PubMed Link: 24324497

Variant Present in the following documents:

• Main text
• IJCB2013-150952.pdf

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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: PRNP: H187R

PubMed Link: 23966072

Variant Present in the following documents:

• Main text
• molecules-18-09451.pdf

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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

Nyström, Sofie S; Mishra, Rajesh R; Hornemann, Simone S; Aguzzi, Adriano A; Nilsson, K Peter R KP; Hammarström, Per P

Publication Date: 2012-07-27

Variant appearance in text: PRNP: H187R

PubMed Link: 22669942

Variant Present in the following documents:

• Main text

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Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation.

Plos One

Monaco, Salvatore S; Fiorini, Michele M; Farinazzo, Alessia A; Ferrari, Sergio S; Gelati, Matteo M; Piccardo, Pedro P; Zanusso, Gianluigi G; Ghetti, Bernardino B

Publication Date: 2012

Variant appearance in text: PRNP: H187R

PubMed Link: 22384235

Variant Present in the following documents:

• Main text
• pone.0032382.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: H187R

PubMed Link: 22018806

Variant Present in the following documents:

• Main text

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Review: contribution of transgenic models to understanding human prion disease.

Neuropathology And Applied Neurobiology

Wadsworth, J D F JD; Asante, E A EA; Collinge, J J

Publication Date: 2010-12

Variant appearance in text: PRNP: H187R

PubMed Link: 20880036

Variant Present in the following documents:

• nan0036-0576.pdf

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Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.

Bioinformatics And Biology Insights

Kedarisetti, Kanaka Durga KD; Dick, Scott S; Kurgan, Lukasz L

Publication Date: 2008-03-12

Variant appearance in text: CJD: H187R

PubMed Link: 19812771

Variant Present in the following documents:

• Main text

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Prion proteins with pathogenic and protective mutations show similar structure and dynamics.

Biochemistry

Bae, Sung-Hun SH; Legname, Giuseppe G; Serban, Ana A; Prusiner, Stanley B SB; Wright, Peter E PE; Dyson, H Jane HJ

Publication Date: 2009-09-01

Variant appearance in text: CJD: H187R

PubMed Link: 19618915

Variant Present in the following documents:

• Main text

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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: H187R

PubMed Link: 19602567

Variant Present in the following documents:

• Main text

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Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins.

The Journal Of General Virology

Asante, Emmanuel A EA; Gowland, Ian I; Grimshaw, Andrew A; Linehan, Jacqueline M JM; Smidak, Michelle M; Houghton, Richard R; Osiguwa, Olufunmilayo O; Tomlinson, Andrew A; Joiner, Susan S; Brandner, Sebastian S; Wadsworth, Jonathan D F JDF; Collinge, John J

Publication Date: 2009-03

Variant appearance in text: PRNP: H187R

PubMed Link: 19218199

Variant Present in the following documents:

• 546.pdf

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Human prion proteins with pathogenic mutations share common conformational changes resulting in enhanced binding to glycosaminoglycans.

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

Yin, Shaoman S; Pham, Nancy N; Yu, Shuiliang S; Li, Chaoyang C; Wong, Poki P; Chang, Binggong B; Kang, Shin-Chung SC; Biasini, Emiliano E; Tien, Po P; Harris, David A DA; Sy, Man-Sun MS

Publication Date: 2007-05-01

Variant appearance in text: PRNP: H187R

PubMed Link: 17456603

Variant Present in the following documents:

• Main text

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Stability and Cu(II) binding of prion protein variants related to inherited human prion diseases.

Biophysical Journal

Cereghetti, Grazia M GM; Schweiger, Arthur A; Glockshuber, Rudi R; Van Doorslaer, Sabine S

Publication Date: 2003-03

Variant appearance in text: CJD: H187R

PubMed Link: 12609901

Variant Present in the following documents:

• Main text

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