Zobrazeno 1 - 10
of 127
pro vyhledávání: '"MAPT gene"'
Autor:
Mirjana Babić Leko, Ena Španić Popovački, Nanet Willumsen, Matea Nikolac Perković, Nikolina Pleić, Klara Zubčić, Lea Langer Horvat, Željka Vogrinc, Marina Boban, Fran Borovečki, Tatijana Zemunik, Rohan de Silva, Goran Šimić
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
IntroductionGenetic studies have shown that variants in the microtubule-associated protein tau (MAPT) gene, which encodes tau protein, can increase the risk for Alzheimer’s disease (AD). Additionally, two haplotypes of the MAPT gene (H1 and H2) are
Externí odkaz:
https://doaj.org/article/97c012c1878d4549bb1a5124b3f5cc7d
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundMAPT variants are a known cause of frontotemporal dementia and Parkinsonian syndrome, of which progressive supranuclear palsy syndrome (PSP) is a rare manifestation.ObjectiveTo report a novel MAPT variant in a PSP pedigree with autosomal do
Externí odkaz:
https://doaj.org/article/83fc6a4497e2497c864c7a08789e8213
Autor:
Lucia AA Giannini, Merel O Mol, Ana Rajicic, Renee van Buuren, Lana Sarkar, Sanaz Arezoumandan, Daniel T Ohm, David J Irwin, Annemieke JM Rozemuller, Netherlands Brain Bank, John C van Swieten, Harro Seelaar
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-20 (2023)
Abstract Early pathological features of frontotemporal lobar degeneration (FTLD) due to MAPT pathogenic variants (FTLD-MAPT) are understudied, since early-stage tissue is rarely available. Here, we report unique pathological data from three presympto
Externí odkaz:
https://doaj.org/article/233371915a9f40739440fe3dd0d35b5a
Autor:
Jing Xu, Yanmin Xia, Meng Meng, Fang Liu, Ping Che, Yanxin Zhang, Ying Wang, Li Cai, Wen Qin, Nan Zhang
Publikováno v:
Alzheimer’s Research & Therapy, Vol 15, Iss 1, Pp 1-14 (2023)
Abstract Background Semantic variant primary progressive aphasia (svPPA) is generally sporadic, with very few reports of tau pathology caused by MAPT mutations. Methods A 64-year-old man was diagnosed with svPPA with MAPT P301L mutation. Clinical inf
Externí odkaz:
https://doaj.org/article/e389ecd79dd845d8bef51154557d6204
Autor:
Li Liu, Min Chu, Binbin Nie, Deming Jiang, Kexin Xie, Yue Cui, Lin Liu, Yu Kong, Zhongyun Chen, Haitian Nan, Pedro Rosa-Neto, Liyong Wu
Publikováno v:
Alzheimer’s Research & Therapy, Vol 15, Iss 1, Pp 1-10 (2023)
Abstract Background Behavioral variant frontotemporal dementia (bvFTD) is predominantly considered a dysfunction in cortico-cortical transmission, with limited direct investigation of cortical-subcortical transmission. Thus, we aimed to characterize
Externí odkaz:
https://doaj.org/article/98d85e31fe0e42c09bc608afb6dd1a27
Autor:
Li Liu, Min Chu, Binbin Nie, Lin Liu, Kexin Xie, Yue Cui, Yu Kong, Zhongyun Chen, Haitian Nan, Kewei Chen, Pedro Rosa-Neto, Liyong Wu
Publikováno v:
Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background Studies exploring topological properties of the metabolic network during the presymptomatic stage of genetic frontotemporal dementia (FTD) are scarce. However, such knowledge is important for understanding brain function and disea
Externí odkaz:
https://doaj.org/article/f72cd5b1a0b34f49b8e6b1d3a2bcabf2
Autor:
Itzhak Fischer
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
The MAPT gene encoding the microtubule-associated protein tau can generate multiple isoforms by alternative splicing giving rise to proteins which are differentially expressed in specific areas of the nervous system and at different developmental sta
Externí odkaz:
https://doaj.org/article/1a1fff0321f24bbfac2e78fe40886293
Akademický článek
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Autor:
Deborah L. Harrington, Qian Shen, Vida Sadeghi, Mingxiong Huang, Irene Litvan, Xiangyu Wei, Roland R. Lee
Publikováno v:
Frontiers in Aging Neuroscience, Vol 13 (2021)
Decline in semantic cognition in early stages of Parkinson’s disease (PD) is a leading risk factor for future dementia, yet the underlying neural mechanisms are not understood. The present study addressed this gap by investigating the functional co
Externí odkaz:
https://doaj.org/article/39daa308b7d049109f35f30018402c3e
Akademický článek
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