Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Autor: Wilson, Katherine M, Katona, Eszter, Knowles, Kathryn, Lebouvier, Thibaud, Leitão, Maria João, Levin, Johannes, Lladó, Albert, Lombardi, Gemma, Lombardi, Jolina, Loosli, Sandra, Maruta, Carolina, Mead, Simon, Miltenberger, Gabriel, Patil, Saurabh, Minkelen, Rick van, Mitchell, Sara, Moreno, Fermin, Nacmias, Benedetta, Nelson, Annabel, Nicholas, Jennifer, Öijerstedt, Linn, Papma, Janne M, Pasquier, Florence, Peakman, Georgia, Mohapatra, Susovan, Pijnenburg, Yolande, Polito, Cristina, Premi, Enrico, Prioni, Sara, Prix, Catharina, Redaelli, Veronica, Rinaldi, Daisy, Rittman, Tim, Rogaeva, Ekaterina, Rosa-Neto, Pedro, Liu, Yuanjing, Rossi, Giacomina, Rossor, Martin, Santana, Isabel, Santiago, Beatriz, Saracino, Dario, Scarpini, Elio, Schönecker, Sonja, Shafei, Rachelle, Shoesmith, Christen, Sorbi, Sandro, Goyal, Jaya, Tábuas-Pereira, Miguel, Tagliavini, Fabrizio, Tainta, Mikel, Taipa, Ricardo, Tang-Wai, David, Thomas, David L, Thompson, Paul, Timberlake, Carolyn, Tiraboschi, Pietro, Todd, Emily, Sanchez-Valle, Raquel, Damme, Philip Van, Vandenbulcke, Mathieu, Verdelho, Ana, Villanua, Jorge, Warren, Jason, Wilke, Carlo, Wlasich, Elisabeth, Zulaica, Miren, Laforce, Robert Jr, Synofzik, Matthis, Rowe, James B, Finger, Elizabeth, Glaria, Idoia, Vandenberghe, Rik, Butler, Christopher R, Gerhard, Alexander, Van Swieten, John C, Seelaar, Harro, Borroni, Barbara, Galimberti, Daniela, de Mendonça, Alexandre, Masellis, Mario, Tartaglia, M Carmela, Carcolé, Mireia, Otto, Markus, Graff, Caroline, Ducharme, Simon, Schott, Jonathan M, Malaspina, Andrea, Zetterberg, Henrik, Boyanapalli, Ramakrishna, Rohrer, Jonathan D, Isaacs, Adrian M, Initiative, Genetic FTD, Swift, Imogen J, Afonso, Sónia, Almeida, Maria Rosario, Anderl-Straub, Sarah, Andersson, Christin, Antonell, Anna, Archetti, Silvana, Arighi, Andrea, Balasa, Mircea, Barandiaran, Myriam, Bargalló, Nuria, Sogorb-Esteve, Aitana, Bartha, Robart, Bender, Benjamin, Benussi, Alberto, Bertoux, Maxime, Bertrand, Anne, Bessi, Valentina, Black, Sandra, Bocchetta, Martina, Borrego-Ecija, Sergi, Bras, Jose, Heller, Carolin, Brice, Alexis, Bruffaerts, Rose, Camuzat, Agnès, Cañada, Marta, Cantoni, Valentina, Caroppo, Paola, Cash, David, Castelo-Branco, Miguel, Colliot, Olivier, Convery, Rhian, Bouzigues, Arabella, Cope, Thomas, Danek, Adrian, Deramecourt, Vincent, Fede, Giuseppe Di, Díez, Alina, Duro, Diana, Fenoglio, Chiara, Ferrari, Camilla, Ferreira, Catarina B, Fox, Nick, Heslegrave, Amanda J, Freedman, Morris, Fumagalli, Giorgio, Funkiewiez, Aurélie, Gabilondo, Alazne, Gasparotti, Roberto, Gauthier, Serge, Gazzina, Stefano, Giaccone, Giorgio, Gorostidi, Ana, Graf, Lisa, Keshavan, Ashvini, Greaves, Caroline, Guerreiro, Rita, Hoegen, Tobias, Indakoetxea, Begoña, Jelic, Vesna, Jiskoot, Lize, Keren, Ron, Kuchcinski, Gregory, Langheinrich, Tobias, Ber, Isabelle Le

Publikováno v: Neuroscience Institute Publications
Journal of neurology, neurosurgery, and psychiatry 93(7), 761-771 (2022). doi:10.1136/jnnp-2021-328710
Journal of Neurology, Neurosurgery and Psychiatry, 93(7), 761-771. BMJ Publishing Group

ObjectiveA GGGGCC repeat expansion in the C9orf72 gene is the most common cause of genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). As potential therapies targeting the repeat expansion are now entering clinical trials,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d84ae61383ca7aa59b9f774724f0b80

A perturbed network in neurodegeneration

Autor: Jean-Marc Gallo, Dieter Edbauer

Publikováno v: Science / Science now 378(6615), 28-29 (2022). doi:10.1126/science.ade4210
Science

Frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS) are associated with both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 (TBK1) gene. We found that TBK1 is phosphorylated in response to C9orf72 po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63e08f3103aef61de857a05ac4e632c

Reappraisal of TDP-43 pathology in FTLD-U subtypes

Autor: Manuela Neumann, Ian R. A. Mackenzie

Publikováno v: Acta neuropathologica 134(1), 79-96 (2017). doi:10.1007/s00401-017-1716-8

Frontotemporal lobar degeneration with tau-negative, ubiquitin-immunoreactive (-ir) pathology (FTLD-U) is subclassified based on the type and cortical laminar distribution of neuronal inclusions. Following the discovery of the transactive response DN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e2d7dcac9af776ec21a6110010db1a
https://doi.org/10.1007/s00401-017-1716-8

MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations

Autor: Eva-Maria Mandelkow, Zhijun Zhang, Wenjie Mao, Anna Karydas, Kensuke Futai, Rodrigo Lopez-Gonzalez, Fen-Biao Gao, Sandra Almeida, Bruce L. Miller, Helal Uddin Biswas, Michael D. Geschwind, Jacek Biernat

Publikováno v: Stem Cell Reports
Stem cell reports, vol 7, iss 3
Biswas, MHU; Almeida, S; Lopez-Gonzalez, R; Mao, W; Zhang, Z; Karydas, A; et al.(2016). MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations. STEM CELL REPORTS, 7(3), 316-324. doi: 10.1016/j.stemcr.2016.08.006. UCSF: Retrieved from: http://www.escholarship.org/uc/item/60j010sd
Stem cell reports 7(3), 316-324 (2016). doi:10.1016/j.stemcr.2016.08.006
Stem Cell Reports, Vol 7, Iss 3, Pp 316-324 (2016)

Summary How mutations in the microtubule-associated protein tau (MAPT) gene cause frontotemporal dementia (FTD) remains poorly understood. We generated and characterized multiple induced pluripotent stem cell (iPSC) lines from patients with MAPT IVS1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eb9e2b1bc6cc4ebaf6745f81c14ff22
http://europepmc.org/articles/PMC5032669

An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

Autor: Christian Haass, Dieter Edbauer

Publikováno v: Current opinion in neurobiology 36, 99-106 (2016). doi:10.1016/j.conb.2015.10.009

Expansion of a GGGGCC repeat in C9orf72 causes amyotrophic lateral sclerosis, frontotemporal dementia, or a combination of both. Bidirectional repeat transcripts sequester RNA-binding proteins into nuclear RNA foci. The repeat is translated into dipe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70137282704c49f0f353bf85648ef9c4