نتایج جستجو برای: prnp

تعداد نتایج: 934  

2009
Alejandra Rangel Noelia Madroñal Agnès Gruart i. Massó Rosalina Gavín Franc Llorens Lauro Sumoy Juan María Torres José María Delgado-García José Antonio Del Río

BACKGROUND Prionopathies are characterized by spongiform brain degeneration, myoclonia, dementia, and periodic electroencephalographic (EEG) disturbances. The hallmark of prioniopathies is the presence of an abnormal conformational isoform (PrP(sc)) of the natural cellular prion protein (PrP(c)) encoded by the Prnp gene. Although several roles have been attributed to PrP(c), its putative functi...

Journal: :Nephrology Dialysis Transplantation 2023

Abstract Background and Aims Chronic kidney disease (CKD) is an irreversible degenerative characterized by gradual loss of renal function, contributing to high morbidity mortality as well heavy economic cost society. Clinically, there are few available strategies slow CKD progression. Because the uremic phenotypes include many features aging, considered a premature aging syndrome. Neurodegenera...

2018
Jason Margolesky Mario Saporta

The c.341G>T (p.G114V) variant of the prion protein gene (PRNP) has been reported in a Uruguayan and a Chinese family to cause an inheritable prion disease, albeit with incomplete penetrance. The condition is characterized by early-onset, relatively prolonged course, early neuropsychiatric symptoms, followed by pyramidal and extrapyramidal symptoms. We present a 20-year-old African American wom...

2010
Min Jeong Park Hee Young Jo Sang-Myung Cheon Sun Seob Choi Yong-Sun Kim Jae Woo Kim

BACKGROUND Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. CASE REPORT A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evide...

2013
Mee-Ohk Kim Ignazio Cali Abby Oehler Jamie C Fong Katherine Wong Tricia See Jonathan S Katz Pierluigi Gambetti Brianne M Bettcher Stephen J DeArmond Michael D Geschwind

A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200, E200G with codon 129 MV polymorphism (cis valine) and type 2 PrPSc was identified in a patient with a prolonged disease course leading to pathology-proven Jakob-Creutzfeldt disease. Despite the same codon as the most common genetic form of human PRNP mutation, E200K, this novel mutation (E200G) present...

2008
C. Cudalbu V. Mlynárik J. Bremer A. Aguzzi R. Gruetter

Introduction: The prion diseases form a group of fatal neurodegenerative diseases, also described as transmissible spongiform encephalopathies (TSEs), which are caused by abnormal conformational isomers (PrP) of the host-encoded prion proteins (PrP) (1). The mechanism by which prions elicit brain damage and the relative contributions of PrP accumulation and PrP depletion to the prion replicatio...

Journal: :Trends in genetics : TIG 2004
Martin Kreitman Anna Di Rienzo

Natural selection is expected to leave distinctive signatures on patterns of neutral variation that are tightly linked to a site carrying an advantageous mutation. This notion is the basis for molecular population genetics approaches to the analysis of adaptations in the human genome. In principle, this is an attractive prospect; in practice, several complications and challenges make it difficu...

2013
Paul Shapshak

Human prion brain disease has been studied intensely since 1920. Examples of such diseases include Creutzfeldt-Jakob disease (CJD), fatal familial insomnia, Gerstmann-StrausslerScheinker disease, and Kuru. Central in the epidemiology and pathogenesis of prion diseases is the prion protein itself and the gene for this protein resides on chromosome 12, at locus 20pterp12. The prion protein is ter...

Journal: :Journal of Alzheimer's disease : JAD 2016
Emanuela Oldoni Giorgio G Fumagalli Maria Serpente Chiara Fenoglio Marta Scarioni Andrea Arighi Giuseppe Bruno Giuseppina Talarico Annamaria Confaloni Paola Piscopo Benedetta Nacmias Sandro Sorbi Innocenzo Rainero Elisa Rubino Lorenzo Pinessi Giuliano Binetti Roberta Ghidoni Luisa Benussi Giulia Grande Beatrice Arosio Devan Bursey John S Kauwe Sara Mg Cioffi Marina Arcaro Daniela Mari Claudio Mariani Elio Scarpini Daniela Galimberti

The missense P39L variant in the prion protein gene (PRNP) has recently been associated with frontotemporal dementia (FTD). Here, we analyzed the presence of the P39L variant in 761 patients with FTD and 719 controls and found a single carrier among patients. The patient was a 67-year-old male, with a positive family history for dementia, who developed apathy, short term memory deficit, and pos...

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