Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases

Autor: Matthias Schmitz, Anna Villar-Piqué, Peter Hermann, Geòrgia Escaramís, Miguel Calero, Cao Chen, Niels Kruse, Maria Cramm, Ewa Golanska, Beata Sikorska, Pawel P Liberski, Maurizio Pocchiari, Peter Lange, Christiane Stehmann, Shannon Sarros, Eulàlia Martí, Inês Baldeiras, Isabel Santana, Dana Žáková, Eva Mitrová, Xiao-Ping Dong, Steven Collins, Anna Poleggi, Anna Ladogana, Brit Mollenhauer, Gabor G Kovacs, Michael D Geschwind, Raquel Sánchez-Valle, Inga Zerr, Franc Llorens

Publikováno v: Brain 145(2), 700-712 (2022). doi:10.1093/brain/awab350

Genetic prion diseases are a rare and diverse group of fatal neurodegenerative disorders caused by pathogenic sequence variations in the prion protein gene, PRNP. Data on CSF biomarkers in patients with genetic prion diseases are limited and conflict

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3251dde2cdcdec5838164e1496a9193
https://doi.org/10.1093/brain/awab350

RNA editing alterations define manifestation of prion diseases

Autor: Orr Shormoni, Inga Zerr, Katrin Thüne, Eirini Kanata, Juan Carlos Espinosa, Franc Llorens, Matthias Schmitz, Olivier Andreoletti, Athanasios Dimitriadis, Vincenzo Capece, Nikolaos Bekas, Stefan Bonn, Dimitra Dafou, Alba Marín-Moreno, Juan María Torres, Isidre Ferrer, Konstantinos Xanthopoulos, Theodoros Sklaviadis

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (39), pp.19727-19735. ⟨10.1073/pnas.1803521116⟩
Proceedings of the National Academy of Sciences of the United States of America 116(39), 19727-19735 (2019). doi:10.1073/pnas.1803521116

Significance Prion diseases are fatal neurodegenerative disorders characterized by rapidly progressive dementia. Sporadic Creutzfeldt–Jakob disease (sCJD) is the most prevalent. We report that, specific gene-expression alterations utilizing a relia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6cc12a96c15fff08728356383f782ab
https://hal.inrae.fr/hal-03199348/file/pnas-09-2019.pdf

Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases

Autor: Shannon Sarros, Isidre Ferrer, Inês Baldeiras, Isabel Santana, Franc Llorens, Christiane Stehmann, Matthias Schmitz, Anna Villar-Piqué, Miguel Calero, Olga Calero, Raquel Sánchez-Valle, Michael D. Geschwind, Ingolf Lachmann, Anna Poleggi, André Karch, Eva Mitrova, Inga Zerr, Maurizio Pocchiari, Anna Ladogana, Dana Žáková, Steven J. Collins

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Molecular neurobiology 56(4), 2811-2821 (2018). doi:10.1007/s12035-018-1251-1
Recercat. Dipósit de la Recerca de Catalunya
instname
Molecular neurobiology

Cerebrospinal fluid (CSF) total prion protein (t-PrP) is decreased in sporadic Creutzfeldt-Jakob disease (sCJD). However, data on the comparative signatures of t-PrP across the spectrum of prion diseases, longitudinal changes during disease progressi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::190592be13de9a3b24a376660a2223af
https://pubmed.ncbi.nlm.nih.gov/30062673

Genetic human prion disease modelled in PrP transgenic Drosophila

Autor: Thackray, Alana M, Cardova, Alzbeta, Wolf, Hanna, Pradl, Lydia, Vorberg, Ina, Jackson, Walker S, Bujdoso, Raymond

Publikováno v: Biochemical journal 474(19), 3253-3267 (2017). doi:10.1042/BCJ20170462

Inherited human prion diseases, such as fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD), are associated with autosomal dominant mutations in the human prion protein gene PRNP and accumulation of PrPSc, an abnormal isomer o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b1b24d45d7a0e73ef82c5c0c4d6577f0
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-192392

Identification of new molecular alterations in fatal familial insomnia

Autor: Franc Llorens, Juan J. Zarranz, Margalida A. Frau-Méndez, Isidro Ferrer, Iván Fernández-Vega, Katrin Thüne, Inga Zerr, Nadine Gotzmann, Christopher J. Silva, Belén Ansoleaga, Matthias Schmitz, Maria Cramm, Margarita Carmona, Waqas Tahir, Sara Berjaoui

Publikováno v: Human molecular genetics 25(12), ddw108 (2016). doi:10.1093/hmg/ddw108
Europe PubMed Central
Scopus-Elsevier

Fatal familial insomnia is a rare disease caused by a D178N mutation in combination with methionine (Met) at codon 129 in the mutated allele of PRNP (D178N-129M haplotype). FFI is manifested by sleep disturbances with insomnia, autonomic disorders an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d1b6be2c33573d45377a546579e5810
https://pub.dzne.de/record/139013