Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.
Acta Neuropathologica Communications
Davis, Skylar E SE; Cook, Anna K AK; Hall, Justin A JA; Voskobiynyk, Yuliya Y; Carullo, Nancy V NV; Boyle, Nicholas R NR; Hakim, Ahmad R AR; Anderson, Kristian M KM; Hobdy, Kierra P KP; Pugh, Derian A DA; Murchison, Charles F CF; McMeekin, Laura J LJ; Simmons, Micah M; Margolies, Katherine A KA; Cowell, Rita M RM; Nana, Alissa L AL; Spina, Salvatore S; Grinberg, Lea T LT; Miller, Bruce L BL; Seeley, William W WW; Arrant, Andrew E AE
Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency.
Molecular Neurodegeneration
Frew, Jonathan J; Baradaran-Heravi, Alireza A; Balgi, Aruna D AD; Wu, Xiujuan X; Yan, Tyler D TD; Arns, Steve S; Shidmoossavee, Fahimeh S FS; Tan, Jason J; Jaquith, James B JB; Jansen-West, Karen R KR; Lynn, Francis C FC; Gao, Fen-Biao FB; Petrucelli, Leonard L; Feldman, Howard H HH; Mackenzie, Ian R IR; Roberge, Michel M; Nygaard, Haakon B HB
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
The Lancet. Neurology
Moore, Katrina M KM; Nicholas, Jennifer J; Grossman, Murray M; McMillan, Corey T CT; Irwin, David J DJ; Massimo, Lauren L; Van Deerlin, Vivianna M VM; Warren, Jason D JD; Fox, Nick C NC; Rossor, Martin N MN; Mead, Simon S; Bocchetta, Martina M; Boeve, Bradley F BF; Knopman, David S DS; Graff-Radford, Neill R NR; Forsberg, Leah K LK; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; van Swieten, John C JC; Jiskoot, Lize C LC; Meeter, Lieke H LH; Dopper, Elise Gp EG; Papma, Janne M JM; Snowden, Julie S JS; Saxon, Jennifer J; Jones, Matthew M; Pickering-Brown, Stuart S; Le Ber, Isabelle I; Camuzat, Agnès A; Brice, Alexis A; Caroppo, Paola P; Ghidoni, Roberta R; Pievani, Michela M; Benussi, Luisa L; Binetti, Giuliano G; Dickerson, Bradford C BC; Lucente, Diane D; Krivensky, Samantha S; Graff, Caroline C; Öijerstedt, Linn L; Fallström, Marie M; Thonberg, Håkan H; Ghoshal, Nupur N; Morris, John C JC; Borroni, Barbara B; Benussi, Alberto A; Padovani, Alessandro A; Galimberti, Daniela D; Scarpini, Elio E; Fumagalli, Giorgio G GG; Mackenzie, Ian R IR; Hsiung, Ging-Yuek R GR; Sengdy, Pheth P; Boxer, Adam L AL; Rosen, Howie H; Taylor, Joanne B JB; Synofzik, Matthis M; Wilke, Carlo C; Sulzer, Patricia P; Hodges, John R JR; Halliday, Glenda G; Kwok, John J; Sanchez-Valle, Raquel R; Lladó, Albert A; Borrego-Ecija, Sergi S; Santana, Isabel I; Almeida, Maria Rosário MR; Tábuas-Pereira, Miguel M; Moreno, Fermin F; Barandiaran, Myriam M; Indakoetxea, Begoña B; Levin, Johannes J; Danek, Adrian A; Rowe, James B JB; Cope, Thomas E TE; Otto, Markus M; Anderl-Straub, Sarah S; de Mendonça, Alexandre A; Maruta, Carolina C; Masellis, Mario M; Black, Sandra E SE; Couratier, Philippe P; Lautrette, Geraldine G; Huey, Edward D ED; Sorbi, Sandro S; Nacmias, Benedetta B; Laforce, Robert R; Tremblay, Marie-Pier L ML; Vandenberghe, Rik R; Damme, Philip Van PV; Rogalski, Emily J EJ; Weintraub, Sandra S; Gerhard, Alexander A; Onyike, Chiadi U CU; Ducharme, Simon S; Papageorgiou, Sokratis G SG; Ng, Adeline Su Lyn ASL; Brodtmann, Amy A; Finger, Elizabeth E; Guerreiro, Rita R; Bras, Jose J; Rohrer, Jonathan D JD; ,
Restoration of progranulin expression rescues cortical neuron generation in an induced pluripotent stem cell model of frontotemporal dementia.
Stem Cell Reports
Raitano, Susanna S; Ordovàs, Laura L; De Muynck, Louis L; Guo, Wenting W; Espuny-Camacho, Ira I; Geraerts, Martine M; Khurana, Satish S; Vanuytsel, Kim K; Tóth, Balazs I BI; Voets, Thomas T; Vandenberghe, Rik R; Cathomen, Toni T; Van Den Bosch, Ludo L; Vanderhaeghen, Pierre P; Van Damme, Philip P; Verfaillie, Catherine M CM
Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.
Human Molecular Genetics
Lee, Wing C WC; Almeida, Sandra S; Prudencio, Mercedes M; Caulfield, Thomas R TR; Zhang, Yong-Jie YJ; Tay, William M WM; Bauer, Peter O PO; Chew, Jeannie J; Sasaguri, Hiroki H; Jansen-West, Karen R KR; Gendron, Tania F TF; Stetler, Caroline T CT; Finch, NiCole N; Mackenzie, Ian R IR; Rademakers, Rosa R; Gao, Fen-Biao FB; Petrucelli, Leonard L
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.
Acta Neuropathologica
Almeida, Sandra S; Gascon, Eduardo E; Tran, Hélène H; Chou, Hsin Jung HJ; Gendron, Tania F TF; Degroot, Steven S; Tapper, Andrew R AR; Sellier, Chantal C; Charlet-Berguerand, Nicolas N; Karydas, Anna A; Seeley, William W WW; Boxer, Adam L AL; Petrucelli, Leonard L; Miller, Bruce L BL; Gao, Fen-Biao FB
Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.
Cell Reports
Almeida, Sandra S; Zhang, Zhijun Z; Coppola, Giovanni G; Mao, Wenjie W; Futai, Kensuke K; Karydas, Anna A; Geschwind, Michael D MD; Tartaglia, M Carmela MC; Gao, Fuying F; Gianni, Davide D; Sena-Esteves, Miguel M; Geschwind, Daniel H DH; Miller, Bruce L BL; Farese, Robert V RV; Gao, Fen-Biao FB
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Archives Of Neurology
Chen-Plotkin, Alice S AS; Martinez-Lage, Maria M; Sleiman, Patrick M A PM; Hu, William W; Greene, Robert R; Wood, Elisabeth McCarty EM; Bing, Shaoxu S; Grossman, Murray M; Schellenberg, Gerard D GD; Hatanpaa, Kimmo J KJ; Weiner, Myron F MF; White, Charles L CL; Brooks, William S WS; Halliday, Glenda M GM; Kril, Jillian J JJ; Gearing, Marla M; Beach, Thomas G TG; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Rademakers, Rosa R; Boeve, Bradley F BF; Pickering-Brown, Stuart M SM; Snowden, Julie J; van Swieten, John C JC; Heutink, Peter P; Seelaar, Harro H; Murrell, Jill R JR; Ghetti, Bernardino B; Spina, Salvatore S; Grafman, Jordan J; Kaye, Jeffrey A JA; Woltjer, Randall L RL; Mesulam, Marsel M; Bigio, Eileen E; Lladó, Albert A; Miller, Bruce L BL; Alzualde, Ainhoa A; Moreno, Fermin F; Rohrer, Jonathan D JD; Mackenzie, Ian R A IR; Feldman, Howard H HH; Hamilton, Ronald L RL; Cruts, Marc M; Engelborghs, Sebastiaan S; De Deyn, Peter P PP; Van Broeckhoven, Christine C; Bird, Thomas D TD; Cairns, Nigel J NJ; Goate, Allison A; Frosch, Matthew P MP; Riederer, Peter F PF; Bogdanovic, Nenad N; Lee, Virginia M Y VM; Trojanowski, John Q JQ; Van Deerlin, Vivianna M VM
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Archives Of Neurology
Yu, Chang-En CE; Bird, Thomas D TD; Bekris, Lynn M LM; Montine, Thomas J TJ; Leverenz, James B JB; Steinbart, Ellen E; Galloway, Nichole M NM; Feldman, Howard H; Woltjer, Randall R; Miller, Carol A CA; Wood, Elisabeth McCarty EM; Grossman, Murray M; McCluskey, Leo L; Clark, Christopher M CM; Neumann, Manuela M; Danek, Adrian A; Galasko, Douglas R DR; Arnold, Steven E SE; Chen-Plotkin, Alice A; Karydas, Anna A; Miller, Bruce L BL; Trojanowski, John Q JQ; Lee, Virginia M-Y VM; Schellenberg, Gerard D GD; Van Deerlin, Vivianna M VM