| 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.' |
most of the heritability in frontotemporal dementia (ftd) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (c9orf72), pathogenic/likely pathogenic variants in progranulin (grn), and microtubule-associated protein tau (mapt) genes. |
2024-06-07 |
2024-06-10 |
human |
| Stefania Santarelli, Chiara Londero, Alessia Soldano, Carlotta Candelaresi, Leonardo Todeschini, Luisa Vernizzi, Paola Bellost. Frontiers in neuroscience. vol 17. 2023-06-05. PMID:37274187. |
indeed, despite the physiological and morphological differences between the fly and the human brain, most of the biochemical and molecular aspects regulating protein homeostasis, including autophagy, are conserved between the two species.in this review, we will provide an overview of the most common neurodegenerative proteinopathies, which include polyq diseases (huntington's disease, spinocerebellar ataxia 1, 2, and 3), amyotrophic lateral sclerosis (c9orf72, sod1, tdp-43, fus), alzheimer's disease (app, tau) parkinson's disease (a-syn, parkin and pink1, lrrk2) and prion diseases, highlighting the studies using drosophila that have contributed to understanding the conserved mechanisms and elucidating the role of autophagy in these diseases. |
2023-06-05 |
2023-08-14 |
human |
| Lucia A A Giannini, Marjolein Bulk, Boyd Kenkhuis, Ana Rajicic, Shamiram Melhem, Ingrid Hegeman-Kleinn, Lucia Bossoni, Ernst Suidgeest, Elise G P Dopper, John C van Swieten, Louise van der Weerd, Harro Seelaa. Cortical iron accumulation in MAPT- and C9orf 72-associated frontotemporal lobar degeneration. Brain pathology (Zurich, Switzerland). 2023-03-28. PMID:36974379. |
neuroinflammation has been implicated in frontotemporal lobar degeneration (ftld) pathophysiology, including in genetic forms with microtubule-associated protein tau (mapt) mutations (ftld-mapt) or chromosome 9 open reading frame 72 (c9orf72) repeat expansions (ftld-c9orf72). |
2023-03-28 |
2023-08-14 |
Not clear |
| Aurélie Bussy, Jake P Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E Nielsen, Yolande Pijnenburg, Maria Landqvist Waldö, Anne M Remes, Matthias L Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonça, Raquel Sanchez-Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Chris R Butler, Sandro Sorbi, Lize Jiskoot, Harro Seelaar, John C van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B Rowe, Martina Bocchetta, Jonathan D Rohrer, Gabriel A Devenyi, M Mallar Chakravarty, Simon Ducharm. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping. 2023-03-10. PMID:36895129. |
recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (ftd) due to microtubule-associated protein tau (mapt), progranulin (grn) and chromosome 9 open reading frame 72 (c9orf72). |
2023-03-10 |
2023-08-14 |
human |
| Arabella Bouzigues, Lucy L Russell, Georgia Peakman, Martina Bocchetta, Caroline V Greaves, Rhian S Convery, Emily Todd, James B Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, Jonathan D Rohre. Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations. Journal of neurology. 2022-03-29. PMID:35348856. |
a third of frontotemporal dementia (ftd) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (mapt), chromosome 9 open reading frame 72 (c9orf72) and progranulin (grn). |
2022-03-29 |
2023-08-13 |
Not clear |
| Nadine Huber, Sonja Korhonen, Dorit Hoffmann, Stina Leskelä, Hannah Rostalski, Anne M Remes, Paavo Honkakoski, Eino Solje, Annakaisa Haapasal. Deficient neurotransmitter systems and synaptic function in frontotemporal lobar degeneration-Insights into disease mechanisms and current therapeutic approaches. Molecular psychiatry. 2021-11-20. PMID:34799692. |
this review summarizes the present knowledge on neurotransmitter system deficits and synaptic dysfunction in model systems and patients harbouring the most common genetic causes of ftld, the hexanucleotide repeat expansion in c9orf72 and mutations in the granulin (grn) and microtubule-associated protein tau (mapt) genes. |
2021-11-20 |
2023-08-13 |
Not clear |
| Mandi Gandelman, Warunee Dansithong, Karla P Figueroa, Sharan Paul, Daniel R Scoles, Stefan M Puls. Staufen 1 amplifies proapoptotic activation of the unfolded protein response. Cell death and differentiation. vol 27. issue 10. 2021-11-08. PMID:32415281. |
staufen-1 (stau1) is an rna-binding protein that becomes highly overabundant in numerous neurodegenerative disease models, including those carrying mutations in presenilin1 (psen1), microtubule-associated protein tau (mapt), huntingtin (htt), tar dna-binding protein-43 gene (tardbp), or c9orf72. |
2021-11-08 |
2023-08-13 |
Not clear |
| Christopher P Cali, Maribel Patino, Yee Kit Tai, Wan Yun Ho, Catriona A McLean, Christopher M Morris, William W Seeley, Bruce L Miller, Carles Gaig, Jean Paul G Vonsattel, Charles L White, Sigrun Roeber, Hans Kretzschmar, Juan C Troncoso, Claire Troakes, Marla Gearing, Bernardino Ghetti, Vivianna M Van Deerlin, Virginia M-Y Lee, John Q Trojanowski, Kin Y Mok, Helen Ling, Dennis W Dickson, Gerard D Schellenberg, Shuo-Chien Ling, Edward B Le. C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy. Acta neuropathologica. vol 138. issue 5. 2020-09-15. PMID:31327044. |
we hypothesized that intermediate c9orf72 repeats are a genetic risk factor for corticobasal degeneration (cbd), a neurodegenerative disease that can be clinically similar to parkinson's but has distinct tau protein pathology. |
2020-09-15 |
2023-08-13 |
human |
| Vladimir N Uversk. The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Autophagy. vol 13. issue 12. 2019-07-05. PMID:28980860. |
pathological developments leading to amyotrophic lateral sclerosis (als) and frontotemporal lobar degeneration (ftld) are associated with misbehavior of several key proteins, such as sod1 (superoxide dismutase 1), tardbp/tdp-43, fus, c9orf72, and dipeptide repeat proteins generated as a result of the translation of the intronic hexanucleotide expansions in the c9orf72 gene, pfn1 (profilin 1), gle1 (gle1, rna export mediator), pura (purine rich element binding protein a), flcn (folliculin), rbm45 (rna binding motif protein 45), ss18l1/crest, hnrnpa1 (heterogeneous nuclear ribonucleoprotein a1), hnrnpa2b1 (heterogeneous nuclear ribonucleoprotein a2/b1), atxn2 (ataxin 2), mapt (microtubule associated protein tau), and tia1 (tia1 cytotoxic granule associated rna binding protein). |
2019-07-05 |
2023-08-13 |
Not clear |
| Xiang-Qian Che, Qian-Hua Zhao, Yue Huang, Xia Li, Ru-Jing Ren, Sheng-Di Chen, Gang Wang, Qi-Hao Gu. Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia. Current Alzheimer research. vol 14. issue 10. 2018-05-29. PMID:28462717. |
mutations in microtubule associated protein tau (mapt), progranulin (grn), chromosome 9 open-reading frame 72 (c9orf72) and chchd10 genes have been reported causing frontotemporal dementia (ftd) in different populations. |
2018-05-29 |
2023-08-13 |
Not clear |
| Kathryn Volkening, Wendy L Strong, Shauntel Seaton, Wencheng Yang, Michael J Stron. C9orf72 mutations do not influence the tau signature of amyotrophic lateral sclerosis with cognitive impairment (ALSci). Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 18. issue 7-8. 2018-01-29. PMID:28562075. |
c9orf72 mutations do not influence the tau signature of amyotrophic lateral sclerosis with cognitive impairment (alsci). |
2018-01-29 |
2023-08-13 |
Not clear |
| David M A Mann, Julie S Snowde. Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype. Brain pathology (Zurich, Switzerland). vol 27. issue 6. 2018-01-26. PMID:28100023. |
there are three major associated clinical syndromes, behavioral variant frontotemporal dementia (bvftd), semantic dementia (sd) and progressive non-fluent aphasia (pnfa); three principal histologies, involving tau, tdp-43 and fus proteins; and mutations in three major genes, mapt, grn and c9orf72, along with several other less common gene mutations. |
2018-01-26 |
2023-08-13 |
Not clear |
| Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreir. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one. vol 11. issue 9. 2017-08-02. PMID:27632209. |
'microtubule-associated protein tau' (mapt), 'granulin' (grn) and 'chromosome 9 open reading frame72' (c9orf72) gene mutations are the major known genetic causes of frontotemporal dementia (ftd). |
2017-08-02 |
2023-08-13 |
Not clear |
| Carmen Gasca-Salas, Mario Masellis, Edwin Khoo, Binit B Shah, David Fisman, Anthony E Lang, Galit Kleiner-Fisma. Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis. PloS one. vol 11. issue 4. 2016-09-13. PMID:27100392. |
mutations in granulin (pgrn) and tau (mapt), and hexanucleotide repeat expansions near the c9orf72 genes are the most prevalent genetic causes of frontotemporal lobar degeneration. |
2016-09-13 |
2023-08-13 |
Not clear |
| Barbara Borroni, Alberto Benussi, Silvana Archetti, Daniela Galimberti, Lucilla Parnetti, Benedetta Nacmias, Sandro Sorbi, Elio Scarpini, Alessandro Padovan. Csf p-tau181/tau ratio as biomarker for TDP pathology in frontotemporal dementia. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 16. issue 1-2. 2015-12-15. PMID:25352065. |
tau (affected by progressive supranuclear palsy or carriers of mutations within the mapt gene) or tdp-43 (carriers of mutations within granulin, c9orf72, tardbp genes or affected by ftd with motor neuron disease). |
2015-12-15 |
2023-08-13 |
Not clear |
| J L Whitwell, B F Boeve, S D Weigand, M L Senjem, J L Gunter, M C Baker, M DeJesus-Hernandez, D S Knopman, Z K Wszolek, R C Petersen, R Rademakers, C R Jack, K A Joseph. Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images. European journal of neurology. vol 22. issue 5. 2015-12-03. PMID:25683866. |
the aim of our study was to determine the utility of longitudinal magnetic resonance imaging (mri) measurements as potential biomarkers in the main genetic variants of frontotemporal dementia (ftd), including microtubule-associated protein tau (mapt) and progranulin (grn) mutations and c9orf72 repeat expansions, as well as sporadic ftd. |
2015-12-03 |
2023-08-13 |
Not clear |
| Eoin P Flanagan, Matthew C Baker, Ralph B Perkerson, Joseph R Duffy, Edythe A Strand, Jennifer L Whitwell, Mary M Machulda, Rosa Rademakers, Keith A Joseph. Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia. Dementia and geriatric cognitive disorders. vol 39. issue 5-6. 2015-10-22. PMID:25765123. |
mutations in three genes [chromosome 9 open-reading-frame 72 (c9orf72); microtubule-associated protein tau (mapt) and progranulin (grn)] account for the vast majority of familial, and a proportion of sporadic, frontotemporal dementia (ftd) cases. |
2015-10-22 |
2023-08-13 |
Not clear |
| Eun-Joo Kim, Jay C Kwon, Kee Hyung Park, Kyung-Won Park, Jae-Hong Lee, Seong Hye Choi, Jee H Jeong, Byeong C Kim, Soo Jin Yoon, Young Chul Yoon, Sangyun Kim, Key-Chung Park, Byung-Ok Choi, Duk L Na, Chang-Seok Ki, Seung Hyun Ki. Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of aging. vol 35. issue 5. 2014-10-06. PMID:24387985. |
the hexanucleotide repeat expansion (ggggcc) in chromosome 9 open-reading frame 72 (c9orf72) and mutations in the microtubule-associated protein tau (mapt) and progranulin (grn) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (ftd) in western populations. |
2014-10-06 |
2023-08-12 |
Not clear |
| Hee Kyung Park, Sun J Chun. New perspective on parkinsonism in frontotemporal lobar degeneration. Journal of movement disorders. vol 6. issue 1. 2014-06-24. PMID:24868417. |
the genes associated with parkinsonism are microtubule associated protein tau (mapt), progranulin (grn or pgrn), and chromosome 9 open reading frame 72 (c9orf72) repeat expansion. |
2014-06-24 |
2023-08-13 |
human |
| Kevin F Bieniek, Melissa E Murray, Nicola J Rutherford, Monica Castanedes-Casey, Mariely DeJesus-Hernandez, Amanda M Liesinger, Matthew C Baker, Kevin B Boylan, Rosa Rademakers, Dennis W Dickso. Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion. Acta neuropathologica. vol 125. issue 2. 2013-06-25. PMID:23053135. |
tau pathology in frontotemporal lobar degeneration with c9orf72 hexanucleotide repeat expansion. |
2013-06-25 |
2023-08-12 |
Not clear |