| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' Elka Stefanova, Ana Marjanovi\\xc4\\x87, Valerija Dobri\\xc4\\x8di\\xc4\\x87, Gorana Mandi\\xc4\\x87-Stojmenovi\\xc4\\x87, Tanja Stojkovi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Maksim \\xc5\\xa0ar\\xc4\\x8devi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Vladimir S Kosti\\xc4\\x8. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics. 2024-06-07. PMID:38847891.' |
herein, we assessed the frequency of the c9orf72 expansion, pathogenic/likely pathogenic variants in grn and mapt in a well-characterized group of 472 subjects (ftd, alzheimer's disease - ad, mild cognitive impairment - mci, and unspecified dementia - und), recruited in the memory center, neurology clinic, university clinical center of serbia. |
2024-06-07 |
2024-06-10 |
human |
| Antonina Kouli, Lennart R B Spindler, Tim D Fryer, Young T Hong, Maura Malpetti, Franklin I Aigbirhio, Simon R White, Marta Camacho, John T O'Brien, Caroline H Williams-Gra. Neuroinflammation is linked to dementia risk in Parkinson's disease. Brain : a journal of neurology. 2023-09-27. PMID:37757857. |
the net-pdd study longitudinally assesses newly-diagnosed pd patients in two subgroups at low and high dementia risk (stratified based on pentagon copying, semantic fluency, mapt genotype), with comparison to age- and sex-matched controls. |
2023-09-27 |
2023-10-07 |
human |
| Lucia Aa Giannini, Merel O Mol, Ana Rajicic, Renee van Buuren, Lana Sarkar, Sanaz Arezoumandan, Daniel T Ohm, David J Irwin, Annemieke Jm Rozemuller, John C van Swieten, Harro Seelaa. Presymptomatic and early pathological features of MAPT-associated frontotemporal lobar degeneration. Acta neuropathologica communications. vol 11. issue 1. 2023-08-02. PMID:37533060. |
here, we report unique pathological data from three presymptomatic/early-stage mapt variant carriers (ftld clinical dementia rating [ftld-cdr] = 0-1). |
2023-08-02 |
2023-08-14 |
Not clear |
| Paola Piscopo, Margherita Grasso, Valeria Manzini, Andrea Zeni, Michele Castelluzzo, Francesca Fontana, Giuseppina Talarico, Anna Elisa Castellano, Roberto Rivabene, Alessio Crestini, Giuseppe Bruno, Leonardo Ricci, Michela A Dent. Identification of miRNAs regulating MAPT expression and their analysis in plasma of patients with dementia. Frontiers in molecular neuroscience. vol 16. 2023-06-16. PMID:37324585. |
identification of mirnas regulating mapt expression and their analysis in plasma of patients with dementia. |
2023-06-16 |
2023-08-14 |
Not clear |
| Saira Jahangir, Manoj Allala, Armughan S Khan, Veronica E Muyolema Arce, Anandkumar Patel, Karsh Soni, Alireza Sharafsha. A Review of Biomarkers in Delirium Superimposed on Dementia (DSD) and Their Clinical Application to Personalized Treatment and Management. Cureus. vol 15. issue 5. 2023-05-09. PMID:37159618. |
we identify 17 genes commonly associated with both dementia and delirium including apolipoprotein e (apoe), brain-derived neurotrophic factor (bdnf), catechol-o-methyltransferase (comt), butyrylcholinesterase (bche), acetylcholinesterase (ache), dna methyltransferase 1 (dnmt1), prion protein (prp), tumor necrosis factor (tnf), serine palmitoyltransferase long chain base subunit 1 (sptlc1), microtubule-associated protein tau (mapt), alpha-synuclein (αs), superoxide dismutase 1 (sod1), amyloid beta precursor protein (app), neurofilament light (nfl), neurofilament heavy, 5-hydroxytryptamine receptor 2a (htr2a), and serpin family a member 3 (erap3). |
2023-05-09 |
2023-08-14 |
Not clear |
| Miguel Minaya, Rita Martinez, William W Seeley, Abdallah M Eteleeb, Carlos Cruchaga, Oscar Harari, Celeste M Karc. Impact of MAPT mutations on transcriptomic signatures of FTLD brains and patient-derived pluripotent cell models. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 17 Suppl 3. 2022-02-03. PMID:35109104. |
mutations in the microtubule-associated protein tau (mapt) cause heterogeneous forms of frontotemporal lobar dementia with tau inclusions (ftld-tau). |
2022-02-03 |
2023-08-13 |
Not clear |
| Miguel Minaya, Rita Martinez, Abdallah Eteleeb, Carlos Cruchaga, Oscar Harari, Celeste M Karc. Impact of MAPT mutations on transcriptomic signatures of FTLD brains and patient-derived pluripotent cell models. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 17 Suppl 2. 2021-12-31. PMID:34971166. |
mutations in the microtubule-associated protein tau (mapt) cause heterogeneous forms of frontotemporal lobar dementia with tau inclusions (ftld-tau). |
2021-12-31 |
2023-08-13 |
Not clear |
| Chenhui Mao, Liling Dong, Jie Li, Xinying Huang, Dan Lei, Jie Wang, Shanshan Chu, Caiyan Liu, Bin Peng, Liying Cui, Jing Ga. Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort. Journal of molecular neuroscience : MN. vol 71. issue 5. 2021-11-19. PMID:33006106. |
mapt mutation is rare in chinese dementia patients. |
2021-11-19 |
2023-08-13 |
Not clear |
| John B Kwok, Clement T Loy, Carol Dobson-Stone, Glenda M Hallida. The complex relationship between genotype, pathology and phenotype in familial dementia. Neurobiology of disease. vol 145. 2021-10-12. PMID:32927063. |
this review summarizes the relationship between known genetic determinants of these dementia syndromes and variations in key neuropathological proteins in terms of three types of heterogeneity: (i) locus heterogeneity, whereby mutations in different genes cause a similar proteinopathy, as exemplified by mutations in app, psen1 and psen2 leading to ad neuropathology; (ii) allelic heterogeneity, whereby different mutations in the same gene lead to different proteinopathies or neuropathological severity, as exemplified by different mutations in mapt and prnp giving rise to protein species that differ in their biochemistry and affected cell types; and (iii) phenotypic heterogeneity, where identical gene mutations lead to different proteinopathies, as exemplified by lrrk2 p.g2019s being associated with variable lewy body presence and alternative ad neuropathology or ftld-tau. |
2021-10-12 |
2023-08-13 |
Not clear |
| Yong-Chan Kim, Byung-Hoon Jeon. Identification of Somatic Mutations in Dementia-related Genes in Cancer Patients. Current Alzheimer research. vol 17. issue 9. 2021-10-11. PMID:33272183. |
to date, somatic mutations in dementia-related genes, including the amyloid precursor protein (app) gene, presenilin 1 (psen1) gene, psen2 gene, microtubule- associated protein tau (mapt) gene, alpha-synuclein (snca) gene and leucine-rich repeat kinase 2 (lrrk2) gene, have been considered one cause of dementia. |
2021-10-11 |
2023-08-13 |
Not clear |
| Olga Kopach, Noemí Esteras, Selina Wray, Andrey Y Abramov, Dmitri A Rusako. Genetically engineered MAPT 10+16 mutation causes pathophysiological excitability of human iPSC-derived neurons related to 4R tau-induced dementia. Cell death & disease. vol 12. issue 8. 2021-10-11. PMID:34274950. |
genetically engineered mapt 10+16 mutation causes pathophysiological excitability of human ipsc-derived neurons related to 4r tau-induced dementia. |
2021-10-11 |
2023-08-13 |
human |
| Jason D Hinman, Kathie J Ngo, Deborah Kim, Cidi Chen, Carmela R Abraham, Mohsen Ghanbari, M Arfan Ikram, Steven A Kushner, Riki Kawaguchi, Giovanni Coppola, Kerstin Goth, Saverio Bellusci, Israel Hernandez, Kenneth S Kosik, Brent L Foge. miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy. Human molecular genetics. vol 30. issue 1. 2021-10-04. PMID:33555315. |
these two cortical oligodendrocyte gene networks are enriched for genes associated with dementia including mapt and include multiple gene targets of the regulatory microrna, mir-142-3p. |
2021-10-04 |
2023-08-13 |
mouse |
| Megan S Barker, Masood Manoochehri, Sandra J Rizer, Brian S Appleby, Danielle Brushaber, Sheena I Dev, Katrina L Devick, Bradford C Dickerson, Julie A Fields, Tatiana M Foroud, Leah K Forsberg, Douglas R Galasko, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Hilary W Heuer, Ging-Yuek Hsiung, John Kornak, Irene Litvan, Ian R Mackenzie, Mario F Mendez, Belen Pascual, Katherine P Rankin, Katya Rascovsky, Adam M Staffaroni, Maria Carmela Tartaglia, Sandra Weintraub, Bonnie Wong, Bradley F Boeve, Adam L Boxer, Howard J Rosen, Jill Goldman, Edward D Huey, Stephanie Cosentin. Recognition memory and divergent cognitive profiles in prodromal genetic frontotemporal dementia. Cortex; a journal devoted to the study of the nervous system and behavior. vol 139. 2021-07-12. PMID:33857770. |
list learning may be a sensitive cognitive marker for incipient dementia in mapt and potentially a subset of grn carriers. |
2021-07-12 |
2023-08-13 |
human |
| Imane Smaili, Imane Hajjaj, Rachid Razine, Houyam Tibar, Ayyoub Salmi, Naima Bouslam, Ahmed Moussa, Wafa Regragui, Ahmed Bouhouch. A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia. Case reports in genetics. vol 2020. 2020-12-22. PMID:33343949. |
a specific diplotype h1j/h2 of the mapt gene could be responsible for parkinson's disease with dementia. |
2020-12-22 |
2023-08-13 |
Not clear |
| Nicola Coley, Tiia Ngandu, Jenni Lehtisalo, Hilkka Soininen, Bruno Vellas, Edo Richard, Miia Kivipelto, Sandrine Andrie. Adherence to multidomain interventions for dementia prevention: Data from the FINGER and MAPT trials. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 15. issue 6. 2020-06-22. PMID:31047857. |
adherence to multidomain interventions for dementia prevention: data from the finger and mapt trials. |
2020-06-22 |
2023-08-13 |
Not clear |
| Haakon B Nygaard, E Zeynep Erson-Omay, Xiujuan Wu, Brianne A Kent, Cecily Q Bernales, Daniel M Evans, Matthew J Farrer, Carles Vilariño-Güell, Stephen M Strittmatte. Whole-Exome Sequencing of an Exceptional Longevity Cohort. The journals of gerontology. Series A, Biological sciences and medical sciences. vol 74. issue 9. 2020-06-11. PMID:29750252. |
several genes with variants conferring an increased risk for ad and other dementias were identified, including trem2, epha1, abca7, pld3, mapt, and notch3. |
2020-06-11 |
2023-08-13 |
Not clear |
| Francesco Paonessa, Lewis D Evans, Ravi Solanki, Delphine Larrieu, Selina Wray, John Hardy, Stephen P Jackson, Frederick J Livese. Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia. Cell reports. vol 26. issue 3. 2020-04-09. PMID:30650353. |
the neuronal microtubule-associated protein tau, mapt, is central to the pathogenesis of many dementias. |
2020-04-09 |
2023-08-13 |
human |
| Yari Carlomagno, Dah-Eun Chloe Chung, Mei Yue, Aishe Kurti, Nicole M Avendano, Monica Castanedes-Casey, Kelly M Hinkle, Karen Jansen-West, Lillian M Daughrity, Jimei Tong, Virginia Phillips, Rosa Rademakers, Michael DeTure, John D Fryer, Dennis W Dickson, Leonard Petrucelli, Casey Coo. Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant. Acta neuropathologica communications. vol 7. issue 1. 2020-04-02. PMID:30674342. |
pathogenic mutations in the tau gene (microtubule associated protein tau, mapt) are linked to the onset of tauopathy, but the a152t variant is unique in acting as a risk factor for a range of disorders including alzheimer's disease (ad), progressive supranuclear palsy (psp), corticobasal degeneration (cbd), and dementia with lewy bodies (dlb). |
2020-04-02 |
2023-08-13 |
mouse |
| Emil Ygland, Danielle van Westen, Elisabet Englund, Rosa Rademakers, Zbigniew K Wszolek, Karin Nilsson, Christer Nilsson, Maria Landqvist Waldö, Irina Alafuzoff, Oskar Hansson, Lars Gustafson, Andreas Puschman. Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review. Alzheimer's research & therapy. vol 10. issue 1. 2019-09-16. PMID:29370822. |
slowly progressive dementia caused by mapt r406w mutations: longitudinal report on a new kindred and systematic review. |
2019-09-16 |
2023-08-13 |
Not clear |
| Fabrizio Biundo, Dolores Del Prete, Hong Zhang, Ottavio Arancio, Luciano D'Adami. A role for tau in learning, memory and synaptic plasticity. Scientific reports. vol 8. issue 1. 2019-09-09. PMID:29453339. |
tau plays a pivotal role in the pathogenesis of neurodegenerative disorders: mutations in the gene encoding for tau (mapt) are linked to fronto-temporal dementia (ftd) and hyper-phosphorylated aggregates of tau forming neurofibrillary tangles (nfts) that constitute a pathological hallmark of alzheimer disease (ad) and ftd. |
2019-09-09 |
2023-08-13 |
Not clear |