Genome-wide association study and functional validation implicates JADE1 in tauopathy.
Acta Neuropathologica
Farrell, Kurt K; Kim, SoongHo S; Han, Natalia N; Iida, Megan A MA; Gonzalez, Elias M EM; Otero-Garcia, Marcos M; Walker, Jamie M JM; Richardson, Timothy E TE; Renton, Alan E AE; Andrews, Shea J SJ; Fulton-Howard, Brian B; Humphrey, Jack J; Vialle, Ricardo A RA; Bowles, Kathryn R KR; de Paiva Lopes, Katia K; Whitney, Kristen K; Dangoor, Diana K DK; Walsh, Hadley H; Marcora, Edoardo E; Hefti, Marco M MM; Casella, Alicia A; Sissoko, Cheick T CT; Kapoor, Manav M; Novikova, Gloriia G; Udine, Evan E; Wong, Garrett G; Tang, Weijing W; Bhangale, Tushar T; Hunkapiller, Julie J; Ayalon, Gai G; Graham, Robert R RR; Cherry, Jonathan D JD; Cortes, Etty P EP; Borukov, Valeriy Y VY; McKee, Ann C AC; Stein, Thor D TD; Vonsattel, Jean-Paul JP; Teich, Andy F AF; Gearing, Marla M; Glass, Jonathan J; Troncoso, Juan C JC; Frosch, Matthew P MP; Hyman, Bradley T BT; Dickson, Dennis W DW; Murray, Melissa E ME; Attems, Johannes J; Flanagan, Margaret E ME; Mao, Qinwen Q; Mesulam, M-Marsel MM; Weintraub, Sandra S; Woltjer, Randy L RL; Pham, Thao T; Kofler, Julia J; Schneider, Julie A JA; Yu, Lei L; Purohit, Dushyant P DP; Haroutunian, Vahram V; Hof, Patrick R PR; Gandy, Sam S; Sano, Mary M; Beach, Thomas G TG; Poon, Wayne W; Kawas, Claudia H CH; Corrada, María M MM; Rissman, Robert A RA; Metcalf, Jeff J; Shuldberg, Sara S; Salehi, Bahar B; Nelson, Peter T PT; Trojanowski, John Q JQ; Lee, Edward B EB; Wolk, David A DA; McMillan, Corey T CT; Keene, C Dirk CD; Latimer, Caitlin S CS; Montine, Thomas J TJ; Kovacs, Gabor G GG; Lutz, Mirjam I MI; Fischer, Peter P; Perrin, Richard J RJ; Cairns, Nigel J NJ; Franklin, Erin E EE; Cohen, Herbert T HT; Raj, Towfique T; Cobos, Inma I; Frost, Bess B; Goate, Alison A; White Iii, Charles L CL; Crary, John F JF
Altered estradiol-dependent cellular Ca2+ homeostasis and endoplasmic reticulum stress response in Premenstrual Dysphoric Disorder.
Molecular Psychiatry
Li, Howard J HJ; Goff, Allison A; Rudzinskas, Sarah A SA; Jung, Yonwoo Y; Dubey, Neelima N; Hoffman, Jessica J; Hipolito, Dion D; Mazzu, Maria M; Rubinow, David R DR; Schmidt, Peter J PJ; Goldman, David D
Gene-Environment Interactions in Progressive Supranuclear Palsy.
Frontiers In Neurology
Litvan, Irene I; Proudfoot, James A JA; Martin, Eden R ER; Standaert, David D; Riley, David D; Hall, Deborah D; Marras, Connie C; Bayram, Ece E; Dubinsky, Richard M RM; Bordelon, Yvette Y; Reich, Stephen S; Shprecher, David D; Kluger, Benzi B; Cunningham, Christopher C; Schellenberg, Gerard D GD; Jankovic, Joseph J
Latent trait modeling of tau neuropathology in progressive supranuclear palsy.
Acta Neuropathologica
Kouri, Naomi N; Murray, Melissa E ME; Reddy, Joseph S JS; Serie, Daniel J DJ; Soto-Beasley, Alexandra A; Allen, Mariet M; Carrasquillo, Minerva M MM; Wang, Xue X; Castanedes, Monica Casey MC; Baker, Matthew C MC; Rademakers, Rosa R; Uitti, Ryan J RJ; Graff-Radford, Neill R NR; Wszolek, Zbigniew K ZK; Schellenberg, Gerard D GD; Crook, Julia E JE; Ertekin-Taner, Nilüfer N; Ross, Owen A OA; Dickson, Dennis W DW
Tauopathy-associated PERK alleles are functional hypomorphs that increase neuronal vulnerability to ER stress.
Human Molecular Genetics
Yuan, Shauna H SH; Hiramatsu, Nobuhiko N; Liu, Qing Q; Sun, Xuehan Victoria XV; Lenh, David D; Chan, Priscilla P; Chiang, Karen K; Koo, Edward H EH; Kao, Aimee W AW; Litvan, Irene I; Lin, Jonathan H JH
Divergent brain gene expression patterns associate with distinct cell-specific tau neuropathology traits in progressive supranuclear palsy.
Acta Neuropathologica
Allen, Mariet M; Wang, Xue X; Serie, Daniel J DJ; Strickland, Samantha L SL; Burgess, Jeremy D JD; Koga, Shunsuke S; Younkin, Curtis S CS; Nguyen, Thuy T TT; Malphrus, Kimberly G KG; Lincoln, Sarah J SJ; Alamprese, Melissa M; Zhu, Kuixi K; Chang, Rui R; Carrasquillo, Minerva M MM; Kouri, Naomi N; Murray, Melissa E ME; Reddy, Joseph S JS; Funk, Cory C; Price, Nathan D ND; Golde, Todd E TE; Younkin, Steven G SG; Asmann, Yan W YW; Crook, Julia E JE; Dickson, Dennis W DW; Ertekin-Taner, Nilüfer N
Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.
Molecular Neurodegeneration
Chen, Jason A JA; Chen, Zhongbo Z; Won, Hyejung H; Huang, Alden Y AY; Lowe, Jennifer K JK; Wojta, Kevin K; Yokoyama, Jennifer S JS; Bensimon, Gilbert G; Leigh, P Nigel PN; Payan, Christine C; Shatunov, Aleksey A; Jones, Ashley R AR; Lewis, Cathryn M CM; Deloukas, Panagiotis P; Amouyel, Philippe P; Tzourio, Christophe C; Dartigues, Jean-Francois JF; Ludolph, Albert A; Boxer, Adam L AL; Bronstein, Jeff M JM; Al-Chalabi, Ammar A; Geschwind, Daniel H DH; Coppola, Giovanni G
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Annals Of Neurology
Jabbari, Edwin E; Woodside, John J; Tan, Manuela M X MMX; Shoai, Maryam M; Pittman, Alan A; Ferrari, Raffaele R; Mok, Kin Y KY; Zhang, David D; Reynolds, Regina H RH; de Silva, Rohan R; Grimm, Max-Joseph MJ; Respondek, Gesine G; Müller, Ulrich U; Al-Sarraj, Safa S; Gentleman, Stephen M SM; Lees, Andrew J AJ; Warner, Thomas T TT; Hardy, John J; Revesz, Tamas T; Höglinger, Günter U GU; Holton, Janice L JL; Ryten, Mina M; Morris, Huw R HR
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci.
Molecular Neurodegeneration
Sanchez-Contreras, Monica Y MY; Kouri, Naomi N; Cook, Casey N CN; Serie, Daniel J DJ; Heckman, Michael G MG; Finch, NiCole A NA; Caselli, Richard J RJ; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Graff-Radford, Neill N; Petrucelli, Leonard L; Wang, Li-San LS; Schellenberg, Gerard D GD; Dickson, Dennis W DW; Rademakers, Rosa R; Ross, Owen A OA
Genetic influences on cognition in progressive supranuclear palsy.
Movement Disorders : Official Journal Of The Movement Disorder Society
Gerstenecker, Adam A; Roberson, Erik D ED; Schellenberg, Gerard D GD; Standaert, David G DG; Shprecher, David R DR; Kluger, Benzi M BM; Litvan, Irene I
Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies.
Molecular Psychiatry
Chibnik, L B LB; White, C C CC; Mukherjee, S S; Raj, T T; Yu, L L; Larson, E B EB; Montine, T J TJ; Keene, C D CD; Sonnen, J J; Schneider, J A JA; Crane, P K PK; Shulman, J M JM; Bennett, D A DA; De Jager, P L PL
Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci.
Acta Neuropathologica
Allen, Mariet M; Burgess, Jeremy D JD; Ballard, Travis T; Serie, Daniel D; Wang, Xue X; Younkin, Curtis S CS; Sun, Zhifu Z; Kouri, Naomi N; Baheti, Saurabh S; Wang, Chen C; Carrasquillo, Minerva M MM; Nguyen, Thuy T; Lincoln, Sarah S; Malphrus, Kimberly K; Murray, Melissa M; Golde, Todd E TE; Price, Nathan D ND; Younkin, Steven G SG; Schellenberg, Gerard D GD; Asmann, Yan Y; Ordog, Tamas T; Crook, Julia J; Dickson, Dennis D; Ertekin-Taner, Nilüfer N
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
Nature Communications
Kouri, Naomi N; Ross, Owen A OA; Dombroski, Beth B; Younkin, Curtis S CS; Serie, Daniel J DJ; Soto-Ortolaza, Alexandra A; Baker, Matthew M; Finch, Ni Cole A NCA; Yoon, Hyejin H; Kim, Jungsu J; Fujioka, Shinsuke S; McLean, Catriona A CA; Ghetti, Bernardino B; Spina, Salvatore S; Cantwell, Laura B LB; Farlow, Martin R MR; Grafman, Jordan J; Huey, Edward D ED; Ryung Han, Mi M; Beecher, Sherry S; Geller, Evan T ET; Kretzschmar, Hans A HA; Roeber, Sigrun S; Gearing, Marla M; Juncos, Jorge L JL; Vonsattel, Jean Paul G JPG; Van Deerlin, Vivianna M VM; Grossman, Murray M; Hurtig, Howard I HI; Gross, Rachel G RG; Arnold, Steven E SE; Trojanowski, John Q JQ; Lee, Virginia M VM; Wenning, Gregor K GK; White, Charles L CL; Höglinger, Günter U GU; Müller, Ulrich U; Devlin, Bernie B; Golbe, Lawrence I LI; Crook, Julia J; Parisi, Joseph E JE; Boeve, Bradley F BF; Josephs, Keith A KA; Wszolek, Zbigniew K ZK; Uitti, Ryan J RJ; Graff-Radford, Neill R NR; Litvan, Irene I; Younkin, Steven G SG; Wang, Li-San LS; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hakonarsen, Hakon H; Schellenberg, Gerard D GD; Dickson, Dennis W DW
Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.
Neurobiology Of Aging
McMillan, Corey T CT; Toledo, Jon B JB; Avants, Brian B BB; Cook, Philip A PA; Wood, Elisabeth M EM; Suh, Eunran E; Irwin, David J DJ; Powers, John J; Olm, Christopher C; Elman, Lauren L; McCluskey, Leo L; Schellenberg, Gerard D GD; Lee, Virginia M-Y VM; Trojanowski, John Q JQ; Van Deerlin, Vivianna M VM; Grossman, Murray M
The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease.
Acta Neuropathologica Communications
Stutzbach, Lauren D LD; Xie, Sharon X SX; Naj, Adam C AC; Albin, Roger R; Gilman, Sid S; , ; Lee, Virginia M Y VM; Trojanowski, John Q JQ; Devlin, Bernie B; Schellenberg, Gerard D GD
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
Plos Genetics
Zou, Fanggeng F; Chai, High Seng HS; Younkin, Curtis S CS; Allen, Mariet M; Crook, Julia J; Pankratz, V Shane VS; Carrasquillo, Minerva M MM; Rowley, Christopher N CN; Nair, Asha A AA; Middha, Sumit S; Maharjan, Sooraj S; Nguyen, Thuy T; Ma, Li L; Malphrus, Kimberly G KG; Palusak, Ryan R; Lincoln, Sarah S; Bisceglio, Gina G; Georgescu, Constantin C; Kouri, Naomi N; Kolbert, Christopher P CP; Jen, Jin J; Haines, Jonathan L JL; Mayeux, Richard R; Pericak-Vance, Margaret A MA; Farrer, Lindsay A LA; Schellenberg, Gerard D GD; , ; Petersen, Ronald C RC; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N
A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density.
Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Liu, Jie J; Hoppman, Nicole N; O'Connell, Jeffrey R JR; Wang, Hong H; Streeten, Elizabeth A EA; McLenithan, John C JC; Mitchell, Braxton D BD; Shuldiner, Alan R AR
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Nature Genetics
Höglinger, Günter U GU; Melhem, Nadine M NM; Dickson, Dennis W DW; Sleiman, Patrick M A PM; Wang, Li-San LS; Klei, Lambertus L; Rademakers, Rosa R; de Silva, Rohan R; Litvan, Irene I; Riley, David E DE; van Swieten, John C JC; Heutink, Peter P; Wszolek, Zbigniew K ZK; Uitti, Ryan J RJ; Vandrovcova, Jana J; Hurtig, Howard I HI; Gross, Rachel G RG; Maetzler, Walter W; Goldwurm, Stefano S; Tolosa, Eduardo E; Borroni, Barbara B; Pastor, Pau P; , ; Cantwell, Laura B LB; Han, Mi Ryung MR; Dillman, Allissa A; van der Brug, Marcel P MP; Gibbs, J Raphael JR; Cookson, Mark R MR; Hernandez, Dena G DG; Singleton, Andrew B AB; Farrer, Matthew J MJ; Yu, Chang-En CE; Golbe, Lawrence I LI; Revesz, Tamas T; Hardy, John J; Lees, Andrew J AJ; Devlin, Bernie B; Hakonarson, Hakon H; Müller, Ulrich U; Schellenberg, Gerard D GD