Zobrazeno 1 - 10
of 570
pro vyhledávání: '"PRNP gene"'
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 16, Iss 4, Pp 68-75 (2024)
This article presents a clinical case of Gerstmann–Sträussler–Scheinker syndrome (GSS) – a progressive inherited prion disease with an extremely rare phenotype that changed dynamically during the course of the disease and eventually led to the
Externí odkaz:
https://doaj.org/article/b4cd9b80f3394588a08c657c27d40836
Autor:
Rizwana Rasheed, Jamil Ahmad, Tanveer Hussain, Abdul Wajid, Sara Nudhani, Muneeb M. Musthafa, Faiz MMT Marikar
Publikováno v:
Ukrainian Journal of Veterinary and Agricultural Sciences, Vol 6, Iss 3, Pp 3-7 (2023)
Prion diseases are a type of neurodegenerative disorder caused by the transmission of specific pathogens containing prion proteins. Due to the unique structural characteristics of Prion proteins (PrP), which differ from other types of proteins, the e
Externí odkaz:
https://doaj.org/article/b47f37e5a2f64c2a95ccaffd0b604f08
Autor:
Fabiola Rodríguez-Andrade, Arnulfo Villanueva-Castillo, Cesar Feliciano Pastelin-Rojas, Raymundo Avila-Benitez, Ruby Sandy Moreno-Mejía, José Alfredo Galicia-Domínguez
Publikováno v:
Macedonian Veterinary Review, Vol 46, Iss 1, Pp 17-26 (2023)
Transmissible spongiform encephalopathies (TSEs) are a group of neurodegenerative diseases with a chronic and fatal course, which are caused by a misfolded form of the cellular prion protein that is encoded by the host. The purpose of this work was t
Externí odkaz:
https://doaj.org/article/5dd6515789544f49bf164938dac851a1
Publikováno v:
Pesquisa Veterinária Brasileira, Vol 43 (2023)
ABSTRACT: Bovine spongiform encephalopathy (BSE) is a transmissible progressive neurodegenerative disease characterized by the accumulation of a pathological isoform (PrpSC) of the cellular prion protein (PrpC) in the brain of cattle. Two insertion/d
Externí odkaz:
https://doaj.org/article/d58a9b15748243d4ba8482a7f53916d7
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 14, Iss 6, Pp 63-66 (2022)
The article presents a description of the family case of rare hereditary prion disease – Gerstmann–Sträussler–Scheinker syndrome with a verified p.P102L mutation in the PRNP gene. The clinical picture was represented by progressive cerebellar
Externí odkaz:
https://doaj.org/article/36a9b0649a9e4a4e8eb680dda1058c15
Autor:
Lin Chen, Yin Xu, Ming-juan Fang, Yong-guang Shi, Jie Zhang, Liang-liang Zhang, Yu Wang, Yong-zhu Han, Ji-yuan Hu, Ren-min Yang, Xu-en Yu
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare genetic prion disease caused by a mutation in the prion protein (PRNP) gene. It is typically characterized by progressive cerebellar ataxia and slowly progressive dementia. We present a case st
Externí odkaz:
https://doaj.org/article/1555b7b6dc994b57a9d660be871e0a3e
Autor:
Xiaoming He, Sameeullah Memon, Dan Yue, Junhong Zhu, Ying Lu, Xingneng Liu, Heli Xiong, Guozhi Li, Weidong Deng, Dongmei Xi
Publikováno v:
Animals, Vol 13, Iss 23, p 3627 (2023)
Bovine spongiform encephalopathy (BSE) is a fatal disease in cattle caused by misfolded prion proteins and linked to indel polymorphisms in the promoter and intron 1 of the PRNP gene. The aim of this study was to determine the allele, genotype, and h
Externí odkaz:
https://doaj.org/article/24cedf68ac074df79c6922026e51ef4e
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 14, Iss 4, Pp 88-95 (2020)
Fatal familial insomnia (FFI) is a rare genetic human prion disease with an autosomal dominant pattern of inheritance caused by a D178N mutation in the PRNP gene. FFI is characterized by a variable clinical presentation and subacute manifestation. Th
Externí odkaz:
https://doaj.org/article/a1c36d8d4a674bb581ea6e8751ad5e28
Publikováno v:
BAG. Journal of Basic and Applied Genetics, Vol 31, Iss 1, Pp 7-13 (2020)
Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1,000,000 in humans per year, typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseas
Externí odkaz:
https://doaj.org/article/cfc9188dd6af410a8e6bdf60e5be378f
Autor:
Hong Ye, Min Chu, Zhongyun Chen, Kexin Xie, Li Liu, Haitian Nan, Yue Cui, Jing Zhang, Lin Wang, Junjie Li, Liyong Wu
Publikováno v:
NeuroImage: Clinical, Vol 35, Iss , Pp 103086- (2022)
Background: Insomnia and thalamic involvement were frequently reported in patients with genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutations, suggesting E200K might have discrepancy with typical sporadic CJD (sCJD). The study aimed to explor
Externí odkaz:
https://doaj.org/article/d07689d704d64d7fb4b55511cc7de3a5