Llorens, Franc

[["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Current Neurology and Neuroscience Reports"],["dc.bibliographiccitation.volume","17"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Zarranz, Juan-José"],["dc.contributor.author","Fischer, Andre"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Ferrer, Isidro"],["dc.date.accessioned","2018-04-23T11:47:17Z"],["dc.date.available","2018-04-23T11:47:17Z"],["dc.date.issued","2017"],["dc.description.abstract","Purpose of Review Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression. This article reviews recent research on the clinical and molecular aspects of the disease. Recent Findings New clinical and biomarker tools have been implemented in order to assist in the diagnosis of the disease. In addition, the generation of mouse models, the availability of ‘omics’ data in brain tissue and the use of new seeding techniques shed light on the molecular events in FFI pathogenesis. Biochemical studies in human samples also reveal that neuropathological alterations in vulnerable brain regions underlie severe impairment in key cellular processes such as mitochondrial and protein synthesis machinery. Summary Although the development of a therapy is still a major challenge, recent findings represent a step toward understanding of the clinical and molecular aspects of FFI."],["dc.identifier.doi","10.1007/s11910-017-0743-0"],["dc.identifier.gro","3142200"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/13320"],["dc.language.iso","en"],["dc.notes.intern","lifescience updates Crossref Import"],["dc.notes.status","final"],["dc.relation.issn","1528-4042"],["dc.title","Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","95"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Brain Pathology"],["dc.bibliographiccitation.lastpage","106"],["dc.bibliographiccitation.volume","27"],["dc.contributor.author","Frau-Méndez, Margalida A."],["dc.contributor.author","Fernández-Vega, Iván"],["dc.contributor.author","Ansoleaga, Belén"],["dc.contributor.author","Blanco Tech, Rosa"],["dc.contributor.author","Carmona Tech, Margarita"],["dc.contributor.author","Antonio del Rio, Jose"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","José Zarranz, Juan"],["dc.contributor.author","Ferrer, Isidro"],["dc.date.accessioned","2020-12-10T18:27:04Z"],["dc.date.available","2020-12-10T18:27:04Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1111/bpa.12408"],["dc.identifier.issn","1015-6305"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/76235"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Fatal familial insomnia: mitochondrial and protein synthesis machinery decline in the mediodorsal thalamus"],["dc.title.alternative","Fatal Familial Insomnia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Prion"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Ferrer, Isidro"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Frau-Mendez, Lida"],["dc.contributor.author","Fernandez-Vega, Ivan"],["dc.contributor.author","Thune, Katrin"],["dc.contributor.author","Antonio del Rio, Jose"],["dc.contributor.author","Schmizt, Matthias"],["dc.contributor.author","Ansoleaga, Belen"],["dc.contributor.author","Gotzmann, Nadine"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Jose Zarranz, Juan"],["dc.date.accessioned","2018-11-07T10:20:26Z"],["dc.date.available","2018-11-07T10:20:26Z"],["dc.date.issued","2016"],["dc.format.extent","S83"],["dc.identifier.isi","000374656300119"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41890"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Taylor & Francis Inc"],["dc.publisher.place","Philadelphia"],["dc.relation.issn","1933-690X"],["dc.relation.issn","1933-6896"],["dc.title","Identification of new molecular alterations in Fatal Familial Insomnia"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","6412"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Molecular Neurobiology"],["dc.bibliographiccitation.lastpage","6425"],["dc.bibliographiccitation.volume","54"],["dc.contributor.author","Mata, Agata"],["dc.contributor.author","Urrea, Laura"],["dc.contributor.author","Vilches, Silvia"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Thüne, Katrin"],["dc.contributor.author","Espinosa, Juan-Carlos"],["dc.contributor.author","Andréoletti, Olivier"],["dc.contributor.author","Sevillano, Alejandro M."],["dc.contributor.author","Torres, Juan María"],["dc.contributor.author","Requena, Jesús Rodríguez"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Ferrer, Isidro"],["dc.contributor.author","Gavín, Rosalina"],["dc.contributor.author","del Río, José Antonio"],["dc.date.accessioned","2020-12-10T14:14:24Z"],["dc.date.available","2020-12-10T14:14:24Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1007/s12035-016-0177-8"],["dc.identifier.eissn","1559-1182"],["dc.identifier.issn","0893-7648"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/71341"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Reelin Expression in Creutzfeldt-Jakob Disease and Experimental Models of Transmissible Spongiform Encephalopathies"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2417"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","2436"],["dc.bibliographiccitation.volume","25"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Thuene, Katrin"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Ansoleaga, Belen"],["dc.contributor.author","Frau-Mendez, Margalida A."],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Tahir, Waqas"],["dc.contributor.author","Gotzmann, Nadine"],["dc.contributor.author","Berjaoui, Sara"],["dc.contributor.author","Carmona, Margarita"],["dc.contributor.author","Silva, Christopher J."],["dc.contributor.author","Fernandez-Vega, Ivan"],["dc.contributor.author","Jose Zarranz, Juan"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Ferrer, Isidro"],["dc.date.accessioned","2018-11-07T10:12:45Z"],["dc.date.available","2018-11-07T10:12:45Z"],["dc.date.issued","2016"],["dc.description.abstract","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 and spontaneous and evoked myoclonus, among other symptoms. This study describes new neuropathological and biochemical observations in a series of eight patients with FFI. The mediodorsal and anterior nuclei of the thalamus have severe neuronal loss and marked astrocytic gliosis in every case, whereas the entorhinal cortex is variably affected. Spongiform degeneration only occurs in the entorhinal cortex. Synaptic and fine granular proteinase K digestion (PrPres) immunoreactivity is found in the entorhinal cortex but not in the thalamus. Interleukin 6, interleukin 10 receptor alpha subunit, colony stimulating factor 3 receptor and toll-like receptor 7 mRNA expression increases in the thalamus in FFI. PrPc levels are significantly decreased in the thalamus, entorhinal cortex and cerebellum in FFI. This is accompanied by a particular PrPc and PrPres band profile. Altered PrP solubility consistent with significantly reduced PrP levels in the cytoplasmic fraction and increased PrP levels in the insoluble fraction are identified in FFI cases. Amyloid-like deposits are only seen in the entorhinal cortex. The RT-QuIC assay reveals that all the FFI samples of the entorhinal cortex are positive, whereas the thalamus is positive only in three cases and the cerebellumin two cases. The present findings unveil particular neuropathological and neuroinflammatory profiles in FFI and novel characteristics of natural prion protein in FFI, altered PrPres and Scrapie PrP (abnormal and pathogenic PrP) patterns and region-dependent putative capacity of PrP seeding."],["dc.identifier.doi","10.1093/hmg/ddw108"],["dc.identifier.isi","000393062900005"],["dc.identifier.pmid","27056979"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/40298"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","1460-2083"],["dc.relation.issn","0964-6906"],["dc.title","Identification of new molecular alterations in fatal familial insomnia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","36"],["dc.bibliographiccitation.journal","Progress in Neurobiology"],["dc.bibliographiccitation.lastpage","53"],["dc.bibliographiccitation.volume","138"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Ferrer, Isidro"],["dc.contributor.author","Zerr, Inga"],["dc.date.accessioned","2018-11-07T10:17:05Z"],["dc.date.available","2018-11-07T10:17:05Z"],["dc.date.issued","2016"],["dc.description.abstract","Neurodegenerative diseases with abnormal protein aggregates such as Alzheimer's disease, tauopathies, synucleinopathies, and prionopathies, together with vascular encephalopathies, are cause of cognitive impairment and dementia, Identification of reliable biomarkers in biological fluids, particularly in the cerebrospinal fluid (CSF), is of extreme importance in optimizing the precise early clinical diagnosis of distinct entities and predicting the outcome in particular settings. In addition, the study of CSF biomarkers is useful to identify and monitor the underlying pathological processes developing in the central nervous system of affected individuals. Evidence suggests that levels of key CSF molecules correlate, in some circumstances, with prediction, disease progression, and severity of cognitive decline. Correlation of CSF markers and underlying pathological molecular substrates in brain is an exciting field for further study. However, while some dementias such as Creutzfeldt-Jakob disease have accurate CSF biomarkers, other disease types such as dementia with Lewy bodies, vascular dementia, and frontotemporal dementia lack reliable biomarkers for their specific clinical diagnosis. (C) 2016 Elsevier Ltd. All rights reserved."],["dc.identifier.doi","10.1016/j.pneurobio.2016.03.003"],["dc.identifier.isi","000374919700003"],["dc.identifier.pmid","27016008"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41164"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Pergamon-elsevier Science Ltd"],["dc.relation.issn","0301-0082"],["dc.title","CSF biomarkers in neurodegenerative and vascular dementias"],["dc.type","review"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","755"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Journal of Neuropathology & Experimental Neurology"],["dc.bibliographiccitation.lastpage","769"],["dc.bibliographiccitation.volume","75"],["dc.contributor.author","Ansoleaga, Belen"],["dc.contributor.author","Garcia-Esparcia, Paula"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Hernandez-Ortega, Karina"],["dc.contributor.author","Carmona, Margarita"],["dc.contributor.author","Antonio del Rio, Jose"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Ferrer, Isidro"],["dc.date.accessioned","2018-11-07T10:10:51Z"],["dc.date.available","2018-11-07T10:10:51Z"],["dc.date.issued","2016"],["dc.description.abstract","Neuron loss, synaptic decline, and spongiform change are the hallmarks of sporadic Creutzfeldt-Jakob disease (sCJD), and may be related to deficiencies in mitochondria, energy metabolism, and protein synthesis. To investigate these relationships, we determined the expression levels of genes encoding subunits of the 5 protein complexes of the electron transport chain, proteins involved in energy metabolism, nucleolar and ribosomal proteins, and enzymes of purine metabolism in frontal cortex samples from 15 cases of sCJD MM1 and age-matched controls. We also assessed the protein expression levels of subunits of the respiratory chain, initiation and elongation translation factors of protein synthesis, and localization of selected mitochondrial components. We identified marked, generalized alterations of mRNA and protein expression of most subunits of all 5 mitochondrial respiratory chain complexes in sCJD cases. Expression of molecules involved in protein synthesis and purine metabolism were also altered in sCJD. These findings point to altered mRNA and protein expression of components of mitochondria, protein synthesis machinery, and purine metabolism as components of the pathogenesis of CJD."],["dc.identifier.doi","10.1093/jnen/nlw048"],["dc.identifier.isi","000383260100005"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/39938"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.issn","0022-3069"],["dc.title","Altered Mitochondria, Protein Synthesis Machinery, and Purine Metabolism Are Molecular Contributors to the Pathogenesis of Creutzfeldt-Jakob Disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Prion"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Ferrer, Isidro"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Frau-Mendez, Lida"],["dc.contributor.author","Fernandez-Vega, Ivan"],["dc.contributor.author","Thüne, Katrin"],["dc.contributor.author","Antonio del Rio, Jose"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Ansoleaga, Belen"],["dc.contributor.author","Gotzmann, Nadine"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Silva, Christopher J."],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Zarranz, Juan Jose"],["dc.date.accessioned","2018-11-07T10:20:03Z"],["dc.date.available","2018-11-07T10:20:03Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1093/hmg/ddw108"],["dc.identifier.isi","000383361400009"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41799"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","1933-690X"],["dc.relation.issn","1933-6896"],["dc.title","Identification of new molecular alterations in Fatal Familial Insomnia (vol 10, pg S83, 2016)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]