نتایج جستجو برای: prnp

تعداد نتایج: 934  

Journal: :Neurology. Genetics 2016
Kagari Koshi Mano Takashi Matsukawa Jun Mitsui Hiroyuki Ishiura Shin-Ichi Tokushige Yuji Takahashi Naoko Saito Sato Fumiko Kusunoki Nakamoto Yaeko Ichikawa Yu Nagashima Yasuo Terao Jun Shimizu Masashi Hamada Yoshikazu Uesaka Genko Oyama Go Ogawa Jun Yoshimura Koichiro Doi Shinichi Morishita Shoji Tsuji Jun Goto

OBJECTIVE To delineate molecular and clinical characteristics of 3 families with PRNP P105L mutation, a variant of Gerstmann-Sträussler-Scheinker syndrome whose main motor symptoms were parkinsonism and/or involuntary movements. METHODS The causative mutation was first determined in the affected patients of family 1 using whole-exome sequencing, and then mutational analysis was extended to fa...

Journal: :American journal of physiology. Cell physiology 2006
Lorena Varela-Nallar Enrique M Toledo Luis F Larrondo Ana L B Cabral Vilma R Martins Nibaldo C Inestrosa

Prion diseases are caused by the conformational transition of the native alpha-helical cellular prion protein (PrPC) into a beta-sheet pathogenic isoform. However, the normal physiological function of PrPC remains elusive. We report herein that copper induces PrPC expression in primary hippocampal and cortical neurons. PrPC induced by copper has a normal glycosylation pattern, is proteinase K-s...

Journal: :Journal of Alzheimer's disease : JAD 2012
Enrico Premi Andrea Pilotto Antonella Alberici Alice Papetti Silvana Archetti Davide Seripa Antonio Daniele Carlo Masullo Valentina Garibotto Barbara Paghera Federico Caobelli Alessandro Padovani Barbara Borroni

Primary progressive aphasia (PPA) is a heterogeneous disorder characterized by progressive language impairment. Polymorphisms within forkhead box P2 gene (FOXP2) gene have been associated with speech and language impairment. Apolipoprotein E (APOE) genotype and PRNP 129 codon status have been demonstrated to increase the risk of PPA, but with contrasting results. In the present study, we have e...

2009
Gabriele Vaccari Cynthia H. Panagiotidis Cristina Acin Simone Peletto Francis Barillet Pierluigi Acutis Alex Bossers Jan Langeveld Lucien van Keulen Theodoros Sklaviadis Juan J. Badiola Olivier Andréoletti Martin H. Groschup Umberto Agrimi James Foster Wilfred Goldmann

Scrapie is a fatal, neurodegenerative disease of sheep and goats. It is also the earliest known member in the family of diseases classified as transmissible spongiform encephalopathies (TSE) or prion diseases, which includes Creutzfeldt-Jakob disease in humans, bovine spongiform encephalopathy (BSE), and chronic wasting disease in cervids. The recent revelation of naturally occurring BSE in a g...

2014
Hae-Young Shin Jeong-Ho Park Richard I. Carp Eun-Kyoung Choi Yong-Sun Kim

Normal cellular prion protein (PrP(C)) is highly expressed in the central nervous system. The Zürich I Prnp-deficient mouse strain did not show an abnormal phenotype in initial studies, however, in later studies, deficits in exploratory behavior and short- and long-term memory have been revealed. In the present study, numerous autophagic vacuoles were found in neurons from Zürich I Prnp-deficie...

2014
Keiji Uchiyama Hironori Miyata Masashi Yano Yoshitaka Yamaguchi Morikazu Imamura Naomi Muramatsu Nandita Rani Das Junji Chida Hideyuki Hara Suehiro Sakaguchi Noriyuki Nishida

Prion infection induces conformational conversion of the normal prion protein PrPC, into the pathogenic isoform PrPSc, in prion diseases. It has been shown that PrP-knockout (Prnp0/0) mice transgenically reconstituted with a mouse-hamster chimeric PrP lacking N-terminal residues 23-88, or Tg(MHM2Δ23-88)/Prnp 0/0 mice, neither developed the disease nor accumulated MHM2ScΔ23-88 in their brains af...

2010
Michael P Heaton Kreg A Leymaster Theodore S Kalbfleisch Brad A Freking Timothy PL Smith Michael L Clawson William W Laegreid

BACKGROUND Genetic predisposition to scrapie in sheep is associated with several variations in the peptide sequence of the prion protein gene (PRNP). DNA-based tests for scoring PRNP codons are essential tools for eradicating scrapie and for evaluating rare alleles for increased resistance to disease. In addition to those associated with scrapie, there are dozens more PRNP polymorphisms that ma...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1996
S Brandner A Raeber A Sailer T Blättler M Fischer C Weissmann A Aguzzi

Mice devoid of PrPC (Prnp%) are resistant to scrapie and do not allow propagation of the infectious agent (prion). PrPC-expressing neuroectodermal tissue grafted into Prnp% brains but not the surrounding tissue consistently exhibits scrapie-specific pathology and allows prion replication after inoculation. Scrapie prions administered intraocularly into wild-type mice spread efficiently to the c...

2017
T. Peter Lopez Kurt Giles Brittany N. Dugger Abby Oehler Carlo Condello Zuzana Krejciova Julian A. Castaneda George A. Carlson Stanley B. Prusiner

The larger brain of the rat enables a much greater repertoire of complex behaviors than mice, likely making rats preferential for investigating neurodegeneration. Because molecular tools for specific expression of transgenes in the rat brain are sparse, we chose Prnp encoding the prion protein (PrP) to develop a novel vector to drive transgene expression in the rat brain. We compared the rat Pr...

2010
Ihn-Geun Choi Sung-Il Woo Ho Jin Kim Dai-Jin Kim Byung Lae Park Hyun Sub Cheong Charisse Flerida A. Pasaje Tae Joon Park Joon Seol Bae Young Gyu Chai Hyoung Doo Shin

The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases. In this study, we examined the possible genetic association of PRNP*129Val with multiple sclerosis (MS, n=681), mild cognitive impairment (MCI, n=801), alcoholism (n=761) and schizophrenia (n=715) in a Korean population, and compared the data with previou...

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