Zobrazeno 1 - 8 of 8 pro vyhledávání: '"genetics [Insomnia, Fatal Familial]"'
1
Plasma neurofilament light chain as a biomarker for fatal familial insomnia
Autor: Peter Hermann, Sezgi Canaslan, Anna Villar‐Piqué, Timothy Bunck, Stefan Goebel, Franc Llorens, Matthias Schmitz, Inga Zerr
Publikováno v: European journal of neurology 29(6), 1841-1846 (2022). doi:10.1111/ene.15302
Fatal familial insomnia is a rare hereditary prion disease associated with the D178N-129M PRNP mutation. Early diagnosis is difficult, because the clinical syndrome may overlap with affective disorders. In addition, most known cerebrospinal fluid bio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fedcbcc5c974f5600c831b871e0dc932
https://doi.org/10.1111/ene.15302
Zobrazit plný text záznamu
3
Translatome profiling in fatal familial insomnia implicates TOR signaling in somatostatin neurons
Autor: Susanne, Bauer, Lars, Dittrich, Lech, Kaczmarczyk, Melvin, Schleif, Rui, Benfeitas, Walker S, Jackson
Publikováno v: Life science alliance 5(11), e202201530 (2022). doi:10.26508/lsa.202201530
Selective neuronal vulnerability is common in neurodegenerative diseases but poorly understood. In genetic prion diseases, in-cluding fatal familial insomnia (FFI) and Creutzfeldt-Jakob dis-ease (CJD), different mutations in the Prnp gene manifest as
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2c4b8a7a346701594a1af39f3bfd1049
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-189755
Zobrazit plný text záznamu
4
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
Zobrazit plný text záznamu
5
Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases
Autor: Walker S. Jackson, Nicki Watson, Susan Lindquist, Andrew W. Borkowski, Alan Jasanoff, Henryk Faas, Oliver D. King
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America 110(36), 14759-14764 (2013). doi:10.1073/pnas.1312006110
In man, mutations in different regions of the prion protein (PrP) are associated with infectious neurodegenerative diseases that have remarkably different clinical signs and neuropathological lesions. To explore the roots of this phenomenon, we creat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f06b212feb896449c13b85355ea112c
https://europepmc.org/articles/PMC3767526/
Zobrazit plný text záznamu
6
Association of prion protein genotype and scrapie prion protein type with cellular prion protein charge isoform profiles in cerebrospinal fluid of humans with sporadic or familial prion diseases
Autor: Saima Zafar, Katharina Lüllmann, Panteleimon Oikonomou, Elisabeth Ebert, Michael Beekes, Markus Schlomm, Matthias Schmitz, Inga Zerr, Marie Wohlhage, Eva Mitrova
Publikováno v: Neurobiology of Aging
Neurobiology of aging 35(5), 1177-1188 (2014). doi:10.1016/j.neurobiolaging.2013.11.010
The present study investigates whether posttranslational modifications of cellular prion protein (PrP(C)) in the cerebrospinal fluid (CSF) of humans with prion diseases are associated with methionine (M) and/or valine (V) polymorphism at codon 129 of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a8e12b295f55297b0a4e0711a12dbbd
https://pubmed.ncbi.nlm.nih.gov/24360565
Zobrazit plný text záznamu
7
Characteristic CSF Prion Seeding Efficiency in Humans with Prion Diseases
Autor: Saima Zafar, Franziska Kuhn, Maria Cramm, André Karch, Daniela Varges, Alex Raeber, Inga Zerr, Matthias Schmitz, Eva Mitrova, Bjoern Schroeder
Publikováno v: Molecular Neurobiology
Molecular neurobiology 51(1), 396-405 (2014). doi:10.1007/s12035-014-8709-6
The development of in vitro amplification systems allows detecting femtomolar amounts of prion protein scrapie (PrPSc) in human cerebrospinal fluid (CSF). We performed a CSF study to determine the effects of prion disease type, codon 129 genotype, Pr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4260722048d347da6900228834c46f9
Zobrazit plný text záznamu
8
Fatal familial insomnia: mitochondrial and protein synthesis machinery decline in the mediodorsal thalamus
Autor: Frau Mendez, Margalida, Fernández-Vega, Iván, Ansoleaga, Belén, Blanco Tech, Rosa, Carmona Murillo, Margarita, Río Fernández, José Antonio del, Zerr, Inga, Llorens Torres, Franc, Zarranz, Juan J., Ferrer, Isidro (Ferrer Abizanda)
Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Brain pathology 27(1), 95-106 (2016). doi:10.1111/bpa.12408
Dipòsit Digital de la UB
Universidad de Barcelona
The expression of subunits of mitochondrial respiratory complexes and components of the protein synthesis machinery from the nucleolus to the ribosome was analyzed in the mediodorsal thalamus in seven cases of fatal familial insomnia (FFI) compared w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0734694983c6ef1c1ebc37805d70fa12
http://hdl.handle.net/2445/140481
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje