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4,956 results

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Page 1
MAPT mutations, tauopathy, and mechanisms of neurodegeneration.
Strang KH, Golde TE, Giasson BI. Strang KH, et al. Lab Invest. 2019 Jul;99(7):912-928. doi: 10.1038/s41374-019-0197-x. Epub 2019 Feb 11. Lab Invest. 2019. PMID: 30742061 Free PMC article. Review.
Herein, we review what is known about how FTDP-17-linked pathogenic MAPT mutations cause disease, with a major focus on the prion-like properties of wild-type and mutant tau proteins. The hypothesized mechanisms by which mutations in the MAPT gene promote tauopathy …
Herein, we review what is known about how FTDP-17-linked pathogenic MAPT mutations cause disease, with a major focus on the prion-lik …
Tau-targeting antisense oligonucleotide MAPT(Rx) in mild Alzheimer's disease: a phase 1b, randomized, placebo-controlled trial.
Mummery CJ, Börjesson-Hanson A, Blackburn DJ, Vijverberg EGB, De Deyn PP, Ducharme S, Jonsson M, Schneider A, Rinne JO, Ludolph AC, Bodenschatz R, Kordasiewicz H, Swayze EE, Fitzsimmons B, Mignon L, Moore KM, Yun C, Baumann T, Li D, Norris DA, Crean R, Graham DL, Huang E, Ratti E, Bennett CF, Junge C, Lane RM. Mummery CJ, et al. Nat Med. 2023 Jun;29(6):1437-1447. doi: 10.1038/s41591-023-02326-3. Epub 2023 Apr 24. Nat Med. 2023. PMID: 37095250 Free PMC article. Clinical Trial.
Tau plays a key role in Alzheimer's disease (AD) pathophysiology, and accumulating evidence suggests that lowering tau may reduce this pathology. We sought to inhibit MAPT expression with a tau-targeting antisense oligonucleotide (MAPT(Rx)) and reduce tau levels in …
Tau plays a key role in Alzheimer's disease (AD) pathophysiology, and accumulating evidence suggests that lowering tau may reduce this patho …
MAPT-Related Frontotemporal Dementia.
Rohrer J, Ryan B, Ahmed R. Rohrer J, et al. 2000 Nov 7 [updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Nov 7 [updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301678 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, …
CLINICAL CHARACTERISTICS: The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expan …
Tau and MAPT genetics in tauopathies and synucleinopathies.
Leveille E, Ross OA, Gan-Or Z. Leveille E, et al. Parkinsonism Relat Disord. 2021 Sep;90:142-154. doi: 10.1016/j.parkreldis.2021.09.008. Epub 2021 Sep 14. Parkinsonism Relat Disord. 2021. PMID: 34593302 Free PMC article. Review.
MAPT encodes the microtubule-associated protein tau, which is the main component of neurofibrillary tangles (NFTs) and found in other protein aggregates. ...Abnormal tau can also be observed in secondary tauopathies such as Alzheimer's disease (AD) and synucleinopathies su …
MAPT encodes the microtubule-associated protein tau, which is the main component of neurofibrillary tangles (NFTs) and found in other …
MAPT/Tau accumulation represses autophagy flux by disrupting IST1-regulated ESCRT-III complex formation: a vicious cycle in Alzheimer neurodegeneration.
Feng Q, Luo Y, Zhang XN, Yang XF, Hong XY, Sun DS, Li XC, Hu Y, Li XG, Zhang JF, Li X, Yang Y, Wang Q, Liu GP, Wang JZ. Feng Q, et al. Autophagy. 2020 Apr;16(4):641-658. doi: 10.1080/15548627.2019.1633862. Epub 2019 Jun 28. Autophagy. 2020. PMID: 31223056 Free PMC article.
Macroautophagy/autophagy deficit induces intracellular MAPT/tau accumulation, the hallmark pathology in Alzheimer disease (AD) and other tauopathies; however, the reverse role of MAPT accumulation in autophagy and neurodegeneration is not clear. ...Upregulating IST1 …
Macroautophagy/autophagy deficit induces intracellular MAPT/tau accumulation, the hallmark pathology in Alzheimer disease (AD) and ot …
Tau Isoforms: Gaining Insight into MAPT Alternative Splicing.
Corsi A, Bombieri C, Valenti MT, Romanelli MG. Corsi A, et al. Int J Mol Sci. 2022 Dec 6;23(23):15383. doi: 10.3390/ijms232315383. Int J Mol Sci. 2022. PMID: 36499709 Free PMC article. Review.
Tau microtubule-associated proteins, encoded by the MAPT gene, are mainly expressed in neurons participating in axonal transport and synaptic plasticity. Six major isoforms differentially expressed during cell development and differentiation are translated by alternative s …
Tau microtubule-associated proteins, encoded by the MAPT gene, are mainly expressed in neurons participating in axonal transport and …
Humanization of the entire murine Mapt gene provides a murine model of pathological human tau propagation.
Saito T, Mihira N, Matsuba Y, Sasaguri H, Hashimoto S, Narasimhan S, Zhang B, Murayama S, Higuchi M, Lee VMY, Trojanowski JQ, Saido TC. Saito T, et al. J Biol Chem. 2019 Aug 23;294(34):12754-12765. doi: 10.1074/jbc.RA119.009487. Epub 2019 Jul 4. J Biol Chem. 2019. PMID: 31273083 Free PMC article.
Here, through a homologous recombination approach that replaced the entire murine Mapt gene with the human ortholog, we developed knock-in mice with humanized Mapt to create an in vivo platform for studying human tauopathy. Of note, the humanized Mapt express …
Here, through a homologous recombination approach that replaced the entire murine Mapt gene with the human ortholog, we developed kno …
Endolysosomal impairment by binding of amyloid beta or MAPT/Tau to V-ATPase and rescue via the HYAL-CD44 axis in Alzheimer disease.
Kim SH, Cho YS, Kim Y, Park J, Yoo SM, Gwak J, Kim Y, Gwon Y, Kam TI, Jung YK. Kim SH, et al. Autophagy. 2023 Aug;19(8):2318-2337. doi: 10.1080/15548627.2023.2181614. Epub 2023 Feb 26. Autophagy. 2023. PMID: 36843263 Free PMC article.
Here, we show that vacuolar ATPase (V-ATPase) is a hub that mediates proteopathy of oligomeric amyloid beta (Abeta) and hyperphosphorylated MAPT/Tau (p-MAPT/Tau). Endolysosomal integrity was largely destroyed in Abeta-overloaded or p-MAPT/Tau-positive neurons …
Here, we show that vacuolar ATPase (V-ATPase) is a hub that mediates proteopathy of oligomeric amyloid beta (Abeta) and hyperphosphorylated …
What's in a Gene? The Outstanding Diversity of MAPT.
Ruiz-Gabarre D, Carnero-Espejo A, Ávila J, García-Escudero V. Ruiz-Gabarre D, et al. Cells. 2022 Mar 1;11(5):840. doi: 10.3390/cells11050840. Cells. 2022. PMID: 35269461 Free PMC article. Review.
Research throughout the years has demonstrated that the splicing landscape of the MAPT gene is far more complex than that, including at least exon skipping events, the use of 3' and 5' alternative splice sites and, as has been recently discovered, also intron retention. In …
Research throughout the years has demonstrated that the splicing landscape of the MAPT gene is far more complex than that, including …
MAPT expression is mediated by long-range interactions with cis-regulatory elements.
Rogers BB, Anderson AG, Lauzon SN, Davis MN, Hauser RM, Roberts SC, Rodriguez-Nunez I, Trausch-Lowther K, Barinaga EA, Taylor JW, Mackiewicz M, Roberts BS, Cooper SJ, Rizzardi LF, Myers RM, Cochran JN. Rogers BB, et al. bioRxiv [Preprint]. 2023 Apr 11:2023.03.07.531520. doi: 10.1101/2023.03.07.531520. bioRxiv. 2023. PMID: 37090552 Free PMC article. Updated. Preprint.
BACKGROUND: Tauopathies are a group of neurodegenerative diseases driven by abnormal aggregates of tau, a microtubule associated protein encoded by the MAPT gene. MAPT expression is absent in neural progenitor cells (NPCs) and increases during differentiation. ...CO …
BACKGROUND: Tauopathies are a group of neurodegenerative diseases driven by abnormal aggregates of tau, a microtubule associated protein enc …
4,956 results