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001-es BibID:	BIBFORM082379
035-os BibID:	(cikkazonosító)2909168
Első szerző:	Babić Leko, Mirjana
Cím:	Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion / Mirjana Babić Leko, Vera Župunski, Jason Kirincich, Dinko Smilović, Tibor Hortobágyi, Patrick R. Hof, Goran Šimić
Dátum:	2019
ISSN:	0953-4180
Megjegyzések:	Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum. The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by tau-, TDP-43-, and FUS-immunoreactive neuronal inclusions. An earlier discovery that a hexanucleotide repeat expansion mutation in chromosome 9 open reading frame 72 (C9orf72) gene causes ALS and FTD established a special subtype of ALS and FTLD with TDP-43 pathology (C9FTD/ALS). Normal individuals carry 2-10 hexanucleotide GGGGCC repeats in the C9orf72 gene, while more than a few hundred repeats represent a risk for ALS and FTD. The proposed molecular mechanisms by which C9orf72 repeat expansions induce neurodegenerative changes are C9orf72 loss-of-function through haploinsufficiency, RNA toxic gain-of-function, and gain-of-function through the accumulation of toxic dipeptide repeat proteins. However, many more cellular processes are affected by pathological processes in C9FTD/ALS, including nucleocytoplasmic transport, RNA processing, normal function of nucleolus, formation of membraneless organelles, translation, ubiquitin proteasome system, Notch signalling pathway, granule transport, and normal function of TAR DNA-binding protein 43 (TDP-43). Although the exact molecular mechanisms through which C9orf72 repeat expansions account for neurodegeneration have not been elucidated, some potential therapeutics, such as antisense oligonucleotides targeting hexanucleotide GGGGCC repeats in mRNA, were successful in preclinical trials and are awaiting phase 1 clinical trials. In this review, we critically discuss each proposed mechanism and provide insight into the most recent studies aiming to elucidate the molecular underpinnings of C9FTD/ALS.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Behavioural Neurology. - 2019 (2019), p. 1-18. -
További szerzők:	Župunski, Vera Kirincich, Jason Smilović, Dinko Hortobágyi Tibor (1965-) (patológus) Hof, Patrick R. Šimić, Goran
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001-es BibID:	BIBFORM069028
Első szerző:	Kovács G. Gábor
Cím:	Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG) / Gabor G. Kovacs, Sharon X. Xie, Edward B. Lee, John L. Robinson, Carrie Caswell, David J. Irwin, Jon B. Toledo, Victoria E. Johnson, Douglas H. Smith, Irina Alafuzoff, Johannes Attems, Janos Bencze, Kevin F. Bieniek, Eileen H. Bigio, Istvan Bodi, Herbert Budka, Dennis W. Dickson, Brittany N. Dugger, Charles Duyckaerts, Isidro Ferrer, Shelley L. Forrest, Ellen Gelpi, Stephen M. Gentleman, Giorgio Giaccone, Lea T. Grinberg, Glenda M. Halliday, Kimmo J. Hatanpaa, Patrick R. Hof, Monika Hofer, Tibor Hortobágyi, James W. Ironside, Andrew King, Julia Kofler, Enikö Kövari, Jillian J. Kril, Seth Love, Ian R. Mackenzie, Qinwen Mao, Radoslav Matej, Catriona McLean, David G. Munoz, Melissa E. Murray, Janna Neltner, Peter T. Nelson, Diane Ritchie, Roberta D. Rodriguez, Zdenek Rohan, Annemieke Rozemuller, Kenji Sakai, Christian Schultz, Danielle Seilhean, Vanessa Smith, Pawel Tacik, Hitoshi Takahashi, Masaki Takao, Dietmar Rudolf Thal, Serge Weis, Stephen B. Wharton, Charles L. White III, John M. Woulfe, Masahito Yamada, John Q. Trojanowski
Dátum:	2017
Megjegyzések:	Aging-related tau astrogliopathy (ARTAG) is a recently introduced terminology. To facilitate the consistent identification of ARTAG and to distinguish ARTAG from other main types of astroglial tau pathologies related to primary frontotemporal lobar degeneration-related tauopathies we evaluated how consistently neuropathologists recognize i) different astroglial tau immunoreactivities including those of ARTAG and those associated with primary tauopathies (study 1); ii) ARTAG subtypes (study 2A); and iii) the severity of ARTAG (study 2B). Microphotographs and scanned sections immunostained for AT8 tau were made available for download and preview. Percentage (%) of agreement and kappa values with 95% confidence interval (CI) were calculated for each evaluation. The overall agreement for study 1 was > 60% with a kappa value of 0.54 (95% CI 0.433-0.645). Moderate agreement (> 90%, kappa: 0.48, 95% CI 0.457-0.900) was reached in study 2A for the identification of ARTAG pathology for each ARTAG subtype (kappa: 0.37-0.71), whereas fair agreement (kappa: 0.39, 95% CI 0.341-0.445) was reached for the evaluation of ARTAG severity. The overall assessment of ARTAG showed moderate agreement (kappa: 0.59, 95% CI 0.534-0.653) between raters. Our study supports the application of the current harmonized evaluation strategy of ARTAG with a slight modification of the evaluation of its severity.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban aging ARTAG tau-astrogliopathy digital pathology interrater agreement tau neuropathology
Megjelenés:	Journal of Neuropathology & Experimental Neurology 76 : 7 (2017), p. 605-619. -
További szerzők:	Xie, Sharon X. Lee, Edward B. Robinson, John L. Caswell, Carrie Irwin, David J. Toledo, Jon B. Johnson, Victoria E. Smith, Douglas H. Alafuzoff, Irina Attems, Johannes Bencze János (1991-) (orvos) Bieniek, Kevin F. Bigio, Eileen H. Bódi István (1967-) (neuropatológus) Budka, Herbert Dickson, Dennis W. Dugger, Brittany N. Duyckaerts, Charles Ferrer, Isidro Forrest, Shelley L. Gelpi, Ellen Gentleman, Stephen Giaccone, Giorgio Grinberg, Lea T. Halliday, Glenda Hatanpaa, Kimmo J. Hof, Patrick R. Hofer, Monika Hortobágyi Tibor (1965-) (patológus) Ironside, James W. King, Andrew Kofler, Julia Kővári Enikő Kril, Jillian J. Love, Seth Mackenzie, Ian R. Mao, Qinwen Matej, Radoslav McLean, Catriona Munoz, David G. Murray, Melissa E. Neltner, Janna Nelson, Peter T. Ritchie, Diane Rodriguez, Roberta D. Rohan, Zdenek Rozemuller, Annemieke Sakai, Kenji Schultz, Christian Seilhean, Danielle Smith, Vanessa Tacik, Pawel Takahashi, Hitoshi Takao, Masaki Thal, Dietmar R. Weis, Serge Wharton, Stephen B. White III, Charles L. Woulfe, John M. Yamada, Masahito Trojanowski, John Q.
Pályázati támogatás:	NAP_KTIA_13_NAP-A-II/7 MTA
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM063323
Első szerző:	Kovács Gábor Géza (neurológus)
Cím:	Aging-related tau astrogliopathy (ARTAG) : harmonized evaluation strategy / Gabor G. Kovacs, Isidro Ferrer, Lea T. Grinberg, Irina Alafuzoff, Johannes Attems, Herbert Budka, Nigel J. Cairns, John F. Crary, Charles Duyckaerts, Bernardino Ghetti, Glenda M. Halliday, James W. Ironside, Seth Love, Ian R. Mackenzie, David G. Munoz, Melissa E. Murray, Peter T. Nelson, Hitoshi Takahashi, John Q. Trojanowski, Olaf Ansorge, Thomas Arzberger, Atik Baborie, Thomas G. Beach, Kevin F. Bieniek, Eileen H. Bigio, Istvan Bodi, Brittany N. Dugger, Mel Feany, Ellen Gelpi, Stephen M. Gentleman, Giorgio Giaccone, Kimmo J. Hatanpaa, Richard Heale, Patrick R. Hof, Monika Hofer, Tibor Hortobágyi, Kurt Jellinger, Gregory A. Jicha, Paul Ince, Julia Kofler, Enikö Kövari, Jillian J. Kril, David M. Mann, Radoslav Matej, Ann C. McKee, Catriona McLean, Ivan Milenkovic, Thomas J. Montine, Shigeo Murayama, Edward B. Lee, Jasmin Rahimi, Roberta D. Rodriguez, Annemieke Rozemüller, Julie A. Schneider, Christian Schultz, William Seeley, Danielle Seilhean, Colin Smith, Fabrizio Tagliavini, Masaki Takao, Dietmar Rudolf Thal, Jon B. Toledo, Markus Tolnay, Juan C. Troncoso, Harry V. Vinters, Serge Weis, Stephen B. Wharton, Charles L. White III, Thomas Wisniewski, John M. Woulfe, Masahito Yamada, Dennis W. Dickson
Dátum:	2016
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Acta neuropathologica 131 : 1 (2016), p. 87-102. -
További szerzők:	Ferrer, Isidro Grinberg, Lea T. Alafuzoff, Irina Attems, Johannes Budka, Herbert Cairns, Nigel J. Crary, John F. Duyckaerts, Charles Ghetti, Bernardino Halliday, Glenda Ironside, James W. Love, Seth Mackenzie, Ian R. Munoz, David G. Murray, Melissa E. Nelson, Peter T. Takahashi, Hitoshi Trojanowski, John Q. Ansorge, Olaf Arzberger, Thomas Baborie, Atik Beach, Thomas G. Bieniek, Kevin F. Bigio, Eileen H. Bódi István (1967-) (neuropatológus) Dugger, Brittany N. Feany, Mel Gelpi, Ellen Gentleman, Stephen Giaccone, Giorgio Hatanpaa, Kimmo J. Heale, Richard Hof, Patrick R. Hofer, Monika Hortobágyi Tibor (1965-) (patológus) Jellinger, Kurt Jicha, Gregory A. Ince, Paul Kofler, Julia Kővári Enikő Kril, Jillian J. Mann, David M. Matej, Radoslav McKee, Ann C. McLean, Catriona Milenkovic, Ivan Montine, Thomas J. Murayama, Shigeo Lee, Edward B. Rahimi, Jasmin Rodriguez, Roberta D. Rozemuller, Annemieke Schneider, Julie A. Schultz, Christian Seeley, William Seilhean, Danielle Smith, Colin Tagliavini, Fabrizio Takao, Masaki Thal, Dietmar R. Toledo, Jon B. Tolnay, Markus Troncoso, Juan C. Vinters, Harry V. Weis, Serge Wharton, Stephen B. White III, Charles L. Wisniewski, Thomas Woulfe, John M. Yamada, Masahito Dickson, Dennis W.
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