Works matching Gerstmann-Sträussler-Scheinker syndrome (GSS)

Results: 30

The prion protein protease sensitivity, stability and seeding activity in variably protease sensitive prionopathy brain tissue suggests molecular overlaps with sporadic Creutzfeldt-Jakob disease.

Published in:

Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0152-4

By:

Peden, Alexander;
Sarode, Deep;
Mulholland, Carl;
Barria, Marcelo;
Ritchie, Diane;
Ironside, James;
Head, Mark

Publication type:

Article

Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome.

Published in:

2020

By:

Bhatia, Sameer;
Bijarnia-Mahay, Sunita;
Dubey, Sudisha;
Gourie-Devi, Mandaville

Publication type:

journal article

microRNA-146a-5p, Neurotropic Viral Infection and Prion Disease (PrD).

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9198, doi. 10.3390/ijms22179198

By:

Pogue, Aileen I.;
Lukiw, Walter J.

Publication type:

Article

Putative aggregation initiation sites in prion protein

Published in:

FEBS Letters, 2006, v. 580, n. 8, p. 2033, doi. 10.1016/j.febslet.2006.03.002

By:

Ziegler, Jan;
Viehrig, Christine;
Geimer, Stefan;
Rösch, Paul;
Schwarzinger, Stephan

Publication type:

Article

Distribution of prion protein in German patients with Creutzfeldt-Jakob disease is different from that in Japanese patients.

Published in:

Acta Neuropathologica, 1994, v. 87, n. 5, p. 481, doi. 10.1007/BF00294174

By:

Doi-Yi, R.;
Kitamoto, T.;
Ogomori, K.;
Mehraein, P.;
Tateishi, J.

Publication type:

Article

PrP knock-out and PrP transgenic mice in prion research.

Published in:

British Medical Bulletin, 2003, v. 66, n. 1, p. 43, doi. 10.1093/bmb/66.1.43

By:

C Weissmann;
E Flechsig

Publication type:

Article

Gerstmann- Sträussler- Scheinker Syndrome with Variable Phenotype in a New Kindred with PRNP- P102L Mutation.

Published in:

Brain Pathology, 2014, v. 24, n. 2, p. 142, doi. 10.1111/bpa.12083

By:

Riudavets, Miguel A.;
Sraka, María Alejandra;
Schultz, Marcelo;
Rojas, Estefanía;
Martinetto, Horacio;
Begué, Christian;
Halac, Inés Noher;
Poleggi, Anna;
Equestre, Michele;
Pocchiari, Maurizio;
Sevlever, Gustavo;
Taratuto, Ana Lía

Publication type:

Article

Accelerated Accumulation of Misfolded Prion Protein and Spongiform Degeneration in a Drosophila Model of Gerstmann--Sträussler--Scheinker Syndrome.

Published in:

Journal of Neuroscience, 2006, v. 26, n. 48, p. 12408, doi. 10.1523/JNEUROSCI.3372-06.2006

By:

Gavin, Brendan A.;
Dolph, Maria J.;
Deleault, Nathan R.;
Geoghegan, James C.;
Khurana, Vikram;
Feany, Mel B.;
Dolph, Patrick J.;
Supattapone, Surachai

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13303, doi. 10.3390/ijms222413303

By:

Jankovska, Nikol;
Matej, Radoslav;
Olejar, Tomas

Publication type:

Article

How an Infection of Sheep Revealed Prion Mechanisms in Alzheimer's Disease and Other Neurodegenerative Disorders.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4861, doi. 10.3390/ijms22094861

By:

Carlson, George A.;
Prusiner, Stanley B.;
Sakaguchi, Suehiro

Publication type:

Article

Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 14, p. 3606, doi. 10.3390/ijms20143606

By:

Bernardi, Livia;
Bruni, Amalia C.

Publication type:

Article

A New Transgenic Mouse Model of Gerstmann-Sträussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP.

Published in:

Journal of Neuroscience, 2009, v. 29, n. 32, p. 10072, doi. 10.1523/JNEUROSCI.2542-09.2009

By:

Wenbin Yang;
Julie Cook;
Rassbach, Benjamin;
Lemus, Azucena;
DeArmond, Stephen J.;
Mastrianni, James A.

Publication type:

Article

Lidské prionové nemoci v ČR: 22 let zkušeností Národní referenční laboratoře pro diagnostiku lidských prionových chorob.

Published in:

Neurologie Pro Praxi, 2024, v. 25, n. 1, p. 9, doi. 10.36290/neu.2024.002

By:

Jankovská, Nikol;
Matěj, Radoslav

Publication type:

Article

Partitioning of human and sheep forms of the pathogenic prion protein during the purification of therapeutic proteins from human plasma.

Published in:

2002

By:

Stenland, Christopher J.;
Lee, Douglas C.;
Brown, Paul;
Petteway Jr., Stephen R.;
Rubenstein, Richard;
Petteway, Stephen R Jr

Publication type:

journal article

Inherited Prion Disease A117V Is Not Simply a Proteinopathy but Produces Prions Transmissible to Transgenic Mice Expressing Homologous Prion Protein.

Published in:

PLoS Pathogens, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.ppat.1003643

By:

Asante, Emmanuel A.;
Linehan, Jacqueline M.;
Smidak, Michelle;
Tomlinson, Andrew;
Grimshaw, Andrew;
Jeelani, Asif;
Jakubcova, Tatiana;
Hamdan, Shyma;
Powell, Caroline;
Brandner, Sebastian;
Wadsworth, Jonathan D. F.;
Collinge, John

Publication type:

Article

Recent Advances in Our Molecular and Mechanistic Understanding of Misfolded Cellular Proteins in Alzheimer's Disease (AD) and Prion Disease (PrD).

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 2, p. 166, doi. 10.3390/biom12020166

By:

Lukiw, Walter J.

Publication type:

Article

Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.

Published in:

Biomolecules (2218-273X), 2019, v. 9, n. 12, p. 800, doi. 10.3390/biom9120800

By:

Zerr, Inga;
Villar-Piqué, Anna;
Schmitz, Vanda Edit;
Poleggi, Anna;
Pocchiari, Maurizio;
Sánchez-Valle, Raquel;
Calero, Miguel;
Calero, Olga;
Baldeiras, Inês;
Santana, Isabel;
Kovacs, Gabor G.;
Llorens, Franc;
Schmitz, Matthias

Publication type:

Article

Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.

Published in:

Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1187813

By:

Lin Chen;
Yin Xu;
Ming-juan Fang;
Yong-guang Shi;
Jie Zhang;
Liang-liang Zhang;
Yu Wang;
Yong-zhu Han;
Ji-yuan Hu;
Ren-min Yang;
Xu-en Yu

Publication type:

Article

Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia.

Published in:

Acta Neuropathologica, 2002, v. 104, n. 4, p. 342, doi. 10.1007/s00401-002-0547-3

By:

Ishizawa, Keisuke;
Komori, Takashi;
Shimazu, Tomokazu;
Yamamoto, Toshimasa;
Kitamoto, Tetsuyuki;
Shimazu, Kunio;
Hirose, Takanori

Publication type:

Article

A CONTRIBUIÇÃO GENÉTICA NO DESENVOLVIMENTO DE DOENÇAS PRIÔNICAS: REVISÃO SISTEMÁTICA.

Published in:

Revista Foco (Interdisciplinary Studies Journal), 2023, v. 16, n. 6, p. 1, doi. 10.54751/revistafoco.v16n6-096

By:

Bitu de Freitas, Yuri Borges;
Ribeiro Pimentel, Ana Luiza Machado;
Albuquerque Amorim Ayres, Celina Kalena;
Siqueira Bocchi, Giovanna;
Costa Diniz, Henrique;
Rezende Albernaz, Vítor;
Veloso Correia, Davi;
Costa Alves, Bruna

Publication type:

Article

Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.

Published in:

2019

By:

Tesar, Adam;
Matej, Radoslav;
Kukal, Jaromir;
Johanidesova, Silvie;
Rektorova, Irena;
Vyhnalek, Martin;
Keller, Jiri;
Eliasova, Ilona;
Parobkova, Eva;
Smetakova, Magdalena;
Musova, Zuzana;
Rusina, Robert

Publication type:

journal article

Scrapie-like prion protein accumulates in aggresomes of cyclosporin A-treated cells.

Published in:

EMBO Journal, 2003, v. 22, n. 3, p. 404, doi. 10.1093/emboj/cdg045

By:

Cohen, Ehud;
Taraboulos, Albert

Publication type:

Article

Human Prion Disorders: Review of the Current Literature and a Twenty-Year Experience of the National Surveillance Center in the Czech Republic.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 10, p. 1821, doi. 10.3390/diagnostics11101821

By:

Jankovska, Nikol;
Rusina, Robert;
Bruzova, Magdalena;
Parobkova, Eva;
Olejar, Tomas;
Matej, Radoslav

Publication type:

Article

NMR Structure of the Human Prion Protein with the Pathological Q212P Mutation Reveals Unique Structural Features.

Published in:

PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011715

By:

Ilc, Gregor;
Giachin, Gabriele;
Jaremko, Mariusz;
Jaremko, Lukasz;
Benetti, Federico;
Plavec, Janez;
Zhukov, Igor;
Legname, Giuseppe

Publication type:

Article

Loss of Anti-Bax Function in Gerstmann-Strä ussler- Scheinker Syndrome-Associated Prion Protein Mutants.

Published in:

PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006647

By:

Jodoin, Julie;
Misiewicz, Micheal;
Makhijani, Priya;
Giannopoulos, Paresa N.;
Hammond, Jennifer;
Goodyer, Cynthia G.;
LeBlanc, Andréa C.

Publication type:

Article

Case Report: Histopathology and Prion Protein Molecular Properties in Inherited Prion Disease With a De Novo Seven-Octapeptide Repeat Insertion.

Published in:

Frontiers in Cellular Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fncel.2020.00150

By:

Cali, Ignazio;
Cracco, Laura;
Saracino, Dario;
Occhipinti, Rossana;
Coppola, Cinzia;
Appleby, Brian Stephen;
Puoti, Gianfranco

Publication type:

Article

Prions mediated neurodegenerative disorders.

Published in:

European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 21, p. 4028

By:

HUANG, W.-J.;
CHEN, W.-W.;
ZHANG, X.

Publication type:

Article

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

Published in:

Neurosciences, 2017, v. 22, n. 2, p. 138, doi. 10.17712/nsj.2017.2.20160522

By:

Ling Long;
Xiaodong Cai;
Yaqing Shu;
Zhengqi Lu

Publication type:

Article

The Prion Diseases.

Published in:

Journal of Geriatric Psychiatry & Neurology, 2010, v. 23, n. 4, p. 277, doi. 10.1177/0891988710383576

By:

Brown, Khalilah;
Mastrianni, James A.

Publication type:

Article

Microglia is a component of the prion protein amyloid plaque in the Gerstmann-Sträussler-Scheinker syndrome.

Published in:

Acta Neuropathologica, 1993, v. 85, n. 6, p. 623, doi. 10.1007/BF00334672

By:

Barcikowska, M.;
Liberski, P.;
Boellaard, J.;
Brown, P.;
Gajdusek, D.;
Budka, H.

Publication type:

Article