Citations 16
[O2–18–01]: TDP‐43 PATHOLOGY DISRUPTS NUCLEAR PORE COMPLEXES AND NUCLEOCYTOPLASMIC TRANSPORT IN ALS/FTD
Seyfried, Nicholas T. , Rademakers, Rosa , Zarnescu, Daniela C. , Glass, Jonathan D. , Chou, Ching‐Chieh , Zhang, Yi, Umoh, Mfon , Powers, Maureen A. , Kukar, Thomas , Boylan, Khrista , Dickson, Dennis W. , Rossoll, Wilfried
Alzheimer's & Dementia | October 20, 2017 | Volume: 13 | Issue: 7S_Part_12 | Pages: No page available
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis
Chew, Jeannie , Stankowski, Jeannette N. , Hayes, Lindsey R. , Zhang, Yong‐Jie , Prudencio, Mercedes , Carlomagno, Yari , Daughrity, Lillian M. , Jansen‐West, Karen , Perkerson, Emilie A., O’Raw, Aliesha D. , Cook, Casey , Pregent, Luc , Belzil, Véronique , Blitterswijk, Marka van , Tabassian, Lilia J., Lee, Chris W. , Yue, Mei, Tong, Jimei, Song, Yuping , Castanedes‐Casey, Monica , Rousseau, Linda , Phillips, Virginia , Rademakers, Rosa , Fryer, John Denis , Rush, Beth , Pedraza, Otto , Caputo, Ana M., Desaro, Pamela , Palmucci, Carla, Robertson, A. , Diehl, Nancy N. , Wiggs, Edythe, Tierney, Michael , Braun, Laura, Farren, Jennifer, Lacomis, David , Fournier, Christina , McCluskey, Leo, Elman, Lauren , Toledo, Jon B. , McBride, Jennifer D. , Tiloca, Cinzia , Morelli, Claudia , Poletti, Barbara , Solca, Federica , Wuu, Joanne , Jockel‐Balsarotti, Jennifer , Rigo, Frank , Ambrose, Christine, Yang, Weixing , Raitcheva, Denitza , Antognetti, Giovanna, McCampbell, Alexander , Boxer, Adam L. , Brown, Robert H. , Bowser, Robert , Miller, Timothy M. , Trojanowski, John Q. , Hu, William T. , Ratti, Antonia , Benatar, Michael , Glass, Jonathan D. , Floeter, Mary Kay, Petrucelli, Leonard , Gendron, Tania F. , Zhang, Yong-Jie , Prudencio, Mercedes , Carlomagno, Yari , Jansen-West, Karen, O'Raw, Aliesha , Pregent, Luc , Belzil, Veronique , van Blitterswijk, Marka , Castanedes-Casey, Monica , Rousseau, Linda , Phillips, Virginia , Rademakers, Rosa , Fryer, John D., Desaro, Pamela , Palmucci, Carla , Robertson, Amelia , Lacomis, David , Ladha, Shafeeq , Tiloca, Cinzia , Poletti, Barbara , Solca, Federica , Prelle, Alessandro , Jockel-Balsarotti, Jennifer , Yang, Weixing , Raitcheva, Denitza , Benatar, Michael , Silani, Vincenzo , Boylan, Kevin B, Petrucelli, Leonard , Dickson, Dennis W. , Heckman, Michael G. , Ladha, Shafeeq , Datta, Abhishek , Swieten, John C. van , Miller, Bruce L. , Grossman, Murray , Berry, James D. , Traynor, Bryan J. , Disney, Matthew D. , Silani, Vincenzo , Rothstein, Jeffrey D. , Boylan, Khrista , Hu, William T.
Science Translational Medicine | March 29, 2017 | Volume: 9 | Issue: 383 | Pages: No page available
Poly(GP) proteins are a promising pharmacodynamic marker for developing and testing therapeutics for treating C9ORF72 -associated amyotrophic lateral sclerosis.
Transethnic genome‐wide scan identifies novel Alzheimer's disease loci
Jun, Gyungah , Chung, Jaeyoon , Beecham, Gary W. , Bennett, David A. , Buxbaum, Joseph D. , Byrd, Goldie S. , Carrasquillo, Minerva M., Crane, Paul K. , Cruchaga, Carlos , Jager, Philip L. De , Ertekin‐Taner, Nilüfer , Evans, Denis A., Fallin, M. Danielle, Friedland, Robert P. , Goate, Alison , Graff‐Radford, Neill R. , Hendrie, Hugh C. , Hall, Kathleen, Hamilton‐Nelson, Kara L., Kukull, Walter A. , Kunkle, Brian W. , Kuwano, Ryozo, Larson, Eric B., Martin, Eden R. , Montine, Thomas J. , Reiman, Eric M. , Reitz, Christiane, Sherva, Richard , George‐Hyslop, Peter St , Thornton, Timothy, Younkin, Steven G., Wang, Li‐San , Wendlund, Jens R., Winslow, Ashley R. , Adams, Perrie M. , Albert, Marilyn S. , Albin, Roger L. , Apostolova, Liana G. , Arnold, Steven E. , Asthana, Sanjay , Atwood, Craig , Barmada, Michjael M, Beach, Thomas G. , Bigio, Eileen H. , Bird, Thomas D., Blacker, Deborah , Bowen, James D. , Boxer, Adam, Cairns, Nigel J. , Cao, Chuanhai , Carlson, Chris , Carlsson, Cynthia M., Carney, Regina M., Carroll, Steven L. , Chui, Helena C., Clark, David G., Corneveaux, Jason J., Cribbs, David H. , DeKosky, Steven T. , Demirci, F. Yesim , Dick, Malcolm, Doody, Rachelle S., Duara, Ranjan , Faber, Kelley , Fairchild, Thomas, Fallon, Kenneth B., Farlow, Martin R. , Frosch, Matthew P. , Gearing, Marla , Geschwind, Daniel H. , Gilbert, John R., Glass, Jonathan D. , Growdon, John H., Håkonarson, Håkon , Hamilton, Ronald L. , Hardy, John , Harrell, Lindy E., Huentelman, Matthew J. , Hulette, Christine M., Jarvik, Gail P. , Jicha, Gregory A. , Jin, Lee‐Way, Karydas, Anna, Koo, Edward H. , Kowall, Neil W. , Kramer, Joel H. , LaFerla, Frank M. , Leverenz, James B. , Ge, Li , Lieberman, Andrew P. , Lin, Chiao‐Feng , Lyketsos, Constantine G. , Mack, Wendy J. , Marson, Daniel , Martiniuk, Frank , Mash, Deborah C. , Masliah, Eliezer , McCormick, Wayne C., McKee, Ann C. , Mesulam, Marsel, Miller, Carol A., Miller, Joshua W., Morris, John C. , Murrell, Jill R. , Olichney, John , Parisi, Joseph E., Partch, Amanda, Paulson, Henry L. , Peskind, Elaine R. , Petersen, Ronald , Pierce, Aimee, Poon, Wayne W. , Raj, Ashok , Raskind, Murray A. , Reisch, Joan, Ringman, John M. , Rosen, Howard J., Rosenberg, Roger N., Royall, Donald R., Sager, Mark A., Sano, Mary , Saykin, Andrew J. , Schneider, Lon S. , Smith, Amanda , Sonnen, Joshua A. , Tanzi, Rudolph E. , Thornton‐Wells, Tricia A., Trojanowski, John Q. , Troncoso, Juan C. , Vinters, Harry V. , Vonsattel, Jean Paul, Weıntraub, Sandra , Wishnek, Sarah, Woltjer, Randall L. , Wright, Clinton B., Wu, Chuang‐Kuo, Yu, Chang‐En , Yu, Lei , Haines, Jonathan L. , Mayeux, Richard , Pericak‐Vance, Margaret A. , Schellenberg, Gerard, Lunetta, Kathryn L. , Farrer, Lindsay A. , Bennett, David A. , Mez, Jesse , Barber, Robert C. , Carrasquillo, Minerva M. , Cruchaga, Carlos , Foroud, Tatiana , Hamilton‐Nelson, Kara L. , Inzelberg, Rivka , Kamboh, M. Ilyas , Kauwe, John S. K. , Logue, Mark W. , Manly, Jennifer J. , Mukherjee, Shubhabrata , Naj, Adam Christian , Sherva, Richard , Vardarajan, Badri Narayan , Barnes, Lisa L. , Becker, James T. , Boeve, Bradley F. , Burke, James R. , Carlsson, Cynthia M. , Chui, Helena C. , Crocco, Elizabeth , DeCarli, Charles , Dickson, Dennis W. , Duara, Ranjan , Ferris, Steven H. , Galasko, Douglas , Ghetti, Bernardino , Green, Robert C. , Head, Elizabeth , Honig, Lawrence S. , Huebinger, Ryan , Hyman, Bradley T. , Kaye, Jeffrey , Kim, Ronald , Lah, James J. , Levey, Allan I. , Li, Ge, López, Oscar L. , McCurry, Susan M. , McDavid, Andrew , Mesulam, Marsel M. , Miller, Bruce L. , Myers, Amanda , O’Bryant, Sid E. , Pankratz, V. Shane , Perry, William , Potter, Huntington , Quinn, Joseph F. , Reisberg, Barry , Roberson, Erik D. , Rogaeva, Ekaterina A. , Schneider, Julie A. , Seeley, William W. , Spina, Salvatore , Stern, Robert A. , Tsuang, Debby W. , Deerlin, Vivianna M. Van , Eldik, Linda J. Van , Welsh-Bohmer, Kathleen Anne , Williamson, Jennifer , Zhang, Xiaoling , Hakonarson, Hakon , Saykin, Andrew J , Leverenz, James B , Jarvik, Gail P , Paulson, Henry L , Hardy, John , Morris, John C , Goate, Alison M , Jicha, Gregory A , Sonnen, Joshua
Alzheimer's & Dementia | February 6, 2017 | Volume: 13 | Issue: 7 | Pages: 727-738
Abstract Introduction Genetic loci for Alzheimer's disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood. Methods We conducted a transethnic genome‐wide association study (GWAS) for late‐onset AD in Stage 1 sample including whites of European Ancestry, African‐Americans, Japanese, and Israeli‐Arabs assembled by the Alzheimer's Disease Genetics Consortium. Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project GWAS dataset. Results Genome‐wide significant (GWS) associations in single‐nucleotide polymorphism (SNP)–based tests ( P < 5 × 10 −8 ) were identified for SNPs in PFDN1/HBEGF , USP6NL/ECHDC3 , and BZRAP1‐AS1 and for the interaction of the (apolipoprotein E) APOE ε4 allele with NFIC SNP. We also obtained GWS evidence ( P < 2.7 × 10 −6 ) for gene‐based association in the total sample with a novel locus, TPBG ( P = 1.8 × 10 −6 ). Discussion Our findings highlight the value of transethnic studies for identifying novel AD susceptibility loci.
Rarity of the Alzheimer Disease–ProtectiveAPPA673T Variant in the United States
Wang, Li-San, Graham, Robert , Crane, Paul K. , Kunkle, Brian W. , Cruchaga, Carlos , Murcia, Josue D. Gonzalez , Cannon‐Albright, Lisa , Baldwin, Clinton T., Blennow, Kaj , Kukull, Walter A. , Faber, Kelley M., Schupf, Nicole , Norton, Maria C. , Tschanz, JoAnn T. , Munger, Ronald G. , Corcoran, Christopher, Lin, Chiao‐Feng , Dombroski, Beth A. , Cantwell, Laura B., Partch, Amanda, Håkonarson, Håkon , George‐Hyslop, Peter St , Goate, Alison , Foroud, Tatiana, Carney, Regina M., Larson, Eric B., Behrens, Timothy W. , Kauwe, John, Haines, Jonathan L. , Farrer, Lindsay A. , Pericak‐Vance, Margaret A. , Mayeux, Richard , Schellenberg, Gerard D., Albert, Marilyn S. , Albin, Roger L. , Apostolova, Liana G. , Arnold, Steven E. , Barber, Robert W., Barmada, M. Michael , Beach, Thomas G. , Beecham, Gary W. , Beekly, Duane, Bennett, David A. , Bigio, Eileen H. , Bird, Thomas D., Blacker, Deborah , Bowen, James D. , Boxer, Adam, Buxbaum, Joseph D. , Cairns, Nigel J. , Cao, Chuanhai , Carlson, Chris , Carroll, Steven L. , Chui, Helena C., Clark, David G., Cribbs, David H. , DeCarli, Charles , DeKosky, Steven T. , Demirci, F. Yesim , Dick, Malcolm, Duara, Ranjan , Ertekin‐Taner, Nilüfer , Fallon, Kenneth B., Farlow, Martin R. , Ferris, Steven H. , Frosch, Matthew P. , Gearing, Marla , Geschwind, Daniel H. , Gilbert, John R., Glass, Jonathan D. , Graff‐Radford, Neill R. , Growdon, John H., Hamilton, Ronald L. , Hamilton‐Nelson, Kara L., Harrell, Lindy E., Hulette, Christine M., Jicha, Gregory A. , Jin, Lee‐Way, Jun, Gyungah , Kamboh, M. Ilyas , Karydas, Anna, Koo, Edward H. , Kowall, Neil W. , Kramer, Joel H. , Kramer, Patricia, LaFerla, Frank M. , Leverenz, James B. , Lieberman, Andrew P. , Lunetta, Kathryn L. , Lyketsos, Constantine G. , Mack, Wendy J. , Marson, Daniel , Martin, Eden R. , Martiniuk, Frank , Mash, Deborah C. , Masliah, Eliezer , McCormick, Wayne C., McKee, Ann C. , Miller, Carol A., Miller, Joshua W., Montine, Thomas J. , Morris, John C. , Murrell, Jill R. , Olichney, John , Parisi, Joseph E., Peskind, Elaine R. , Petersen, Ronald , Pierce, Aimee, Poon, Wayne W. , Raj, Ashok , Raskind, Murray A. , Reiman, Eric M. , Reisberg, Barry , Reitz, Christiane , Ringman, John M. , Rosen, Howard J., Rosenberg, Roger N., Sano, Mary , Saykin, Andrew J. , Schneider, Lon S. , Smith, Amanda , Sonnen, Joshua A. , Stern, Robert A. , Tanzi, Rudolph E. , Thornton‐Wells, Tricia A., Trojanowski, John Q. , Troncoso, Juan C. , Tsuang, Debby W. , Vinters, Harry V. , Vonsattel, Jean Paul, Weıntraub, Sandra , Wishnek, Sarah, Woltjer, Randall L. , Wright, Clinton B., Younkin, Steven G., Yu, Chang‐En , Yu, Lei , DeCarli, Charles , Wang, Li-San, Naj, Adam Christian , Cruchaga, Carlos , Zetterberg, Henrik , Rogaeva, Ekaterina A. , Valladares, Otto , Green, Robert C. , Barnes, Lisa L. , Becker, James T. , Boeve, Bradley F. , Burke, James R. , Chui, Helena C. , Crocco, Elizabeth , Dickson, Dennis W. , Duara, Ranjan , Galasko, Douglas , Ganguli, Mary , Ghetti, Bernardino , Hamilton‐Nelson, Kara L. , Head, Elizabeth , Honig, Lawrence S. , Hyman, Bradley T. , Jarvik, Gail P. , Kaye, Jeffrey , Kim, Ronald , Lah, James J. , Levey, Allan I. , Li, Ge , López, Oscar L. , McCurry, Susan M. , McDavid, Andrew , Mesulam, Marsel M. , Miller, Bruce L. , Perry, William , Potter, Huntington , Quinn, Joseph F. , Roberson, Erik D. , Schneider, Julie A. , Seeley, William W. , Spina, Salvatore , Deerlin, Vivianna M. Van , Eldik, Linda J. Van , Vardarajan, Badri Narayan , Welsh-Bohmer, Kathleen Anne , Williamson, Jennifer , Bennett, David A. , Hakonarson, Hakon , Saykin, Andrew J , Leverenz, James B , Cannon-Albright, Lisa A , Stern, Robert A , Morris, John C , Goate, Alison M , Jicha, Gregory A , Sonnen, Joshua
JAMA Neurology | December 22, 2014 | Volume: 72 | Issue: 2 | Pages: 209
Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease
Jun, Gyungah , Reitz, Christiane, Kunkle, Brian W. , Park, Yo Son, Beecham, Gary W. , Rajbhandary, Ruchita, Hamilton‐Nelson, Kara L., Wang, Li-San, Kauwe, John, Huentelman, Matthew J. , Bird, Thomas D., Baldwin, Clinton T., Jarvik, Gail P. , Crane, Paul K. , Barmada, M. Michael , Demirci, F. Yesim , Cruchaga, Carlos , Kramer, Patricia L., Ertekin‐Taner, Nilüfer , Hardy, John , Graff‐Radford, Neill R. , Larson, Eric B., George‐Hyslop, Peter St , Buxbaum, Joseph D. , Evans, Denis A., Lunetta, Kathryn L. , Kamboh, M. Ilyas , Saykin, Andrew J. , Reiman, Eric M. , Jager, Philip L. De , Morris, John C. , Montine, Thomas J. , Goate, Alison , Blacker, Deborah , Tsuang, Debby W. , Håkonarson, Håkon , Kukull, Walter A. , Foroud, Tatiana, Martin, Eden R. , Haines, Jonathan L. , Mayeux, Richard , Farrer, Lindsay A. , Schellenberg, Gerard D., Pericak‐Vance, Margaret A. , Albert, Marilyn S. , Albin, Roger L. , Apostolova, Liana G. , Arnold, Steven E. , Barber, Robert W., Beach, Thomas G. , Beekly, Duane, Bigio, Eileen H. , Bowen, James D. , Boxer, Adam, Cairns, Nigel J. , Cantwell, Laura B., Cao, Chuanhai , Carlson, Chris , Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L. , Chui, Helena C., Clark, David G., Corneveaux, Jason J., Cribbs, David H. , DeCarli, Charles , DeKosky, Steven T. , Dick, Malcolm, Duara, Ranjan , Faber, Kelley M., Fallon, Kenneth B., Farlow, Martin R. , Ferris, Steven H. , Frosch, Matthew P. , Gearing, Marla , Geschwind, Daniel H. , Gilbert, John R., Glass, Jonathan D. , Growdon, John H., Hamilton, Ronald L. , Harrell, Lindy E., Hulette, Christine M., Jicha, Gregory A. , Jin, Lee‐Way, Karydas, Anna, Koo, Edward H. , Kowall, Neil W. , Kramer, Joel H. , LaFerla, Frank M. , Leverenz, James B. , Li, Ge , Lieberman, Andrew P. , Lin, Chiao‐Feng , Lyketsos, Constantine G. , Mack, Wendy J. , Martiniuk, Frank , Mash, Deborah C. , Masliah, Eliezer , McCormick, Wayne C., McKee, Ann C. , Miller, Carol A., Miller, Joshua W., Murrell, Jill R. , Olichney, John , Parisi, Joseph E., Paulson, Henry L. , Peskind, Elaine R. , Petersen, Ronald , Pierce, Aimee, Poon, Wayne W. , Raj, Ashok , Raskind, Murray A. , Reisberg, Barry , Ringman, John M. , Rosen, Howard J., Rosenberg, Roger N., Sano, Mary , Schneider, Lon S. , Smith, Amanda , Sonnen, Joshua A. , Stern, Robert A. , Tanzi, Rudolph E. , Thornton‐Wells, Tricia A., Trojanowski, John Q. , Troncoso, Juan C. , Vinters, Harry V. , Vonsattel, Jean Paul, Weıntraub, Sandra , Wishnek, Sarah, Woltjer, Randall L. , Wright, Clinton B., Younkin, Steven G., Yu, Chang‐En , Yu, Lei, Bennett, David A. , DeCarli, Charles , Pankratz, Vernon S, Naj, Adam Christian , Perry, William , Hamilton‐Nelson, Kara L. , Wang, Li-San, Myers, Amanda , Boeve, Bradley F. , Rogaeva, Ekaterina A. , Cruchaga, Carlos , Kramer, P. L., Green, Robert C. , Schneider, Julie A. , Bennett, David , Barnes, Lisa L. , Becker, James T. , Burke, James R. , Carrasquillo, Minerva M. , Chui, Helena C. , Crocco, Elizabeth , Dickson, Dennis W. , Duara, Ranjan , Galasko, Douglas , Ganguli, Mary , Ghetti, Bernardino , Head, Elizabeth , Honig, Lawrence S. , Hyman, Bradley T. , Kaye, Jeffrey , Kim, Ronald , Lah, James J. , Levey, Allan I. , López, Oscar L. , McCurry, Susan M. , McDavid, Andrew , Mesulam, Marsel M. , Miller, Bruce L. , Pankratz, V. Shane , Potter, Huntington , Quinn, Joseph F. , Roberson, Erik D. , Seeley, William W. , Spina, Salvatore , Valladares, Otto , Deerlin, Vivianna M. Van , Eldik, Linda J. Van , Vardarajan, Badri Narayan , Welsh-Bohmer, Kathleen Anne , Williamson, Jennifer , Bennett, David A. , Hakonarson, Hakon , Saykin, Andrew J , Leverenz, James B , Jarvik, Gail P , Paulson, Henry L , Stern, Robert A , Hardy, John , Morris, John C , Goate, Alison M , Jicha, Gregory A , Sonnen, Joshua
JAMA Neurology | September 8, 2014 | Volume: 71 | Issue: 11 | Pages: 1394
Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS
Brotherton, Terrell, Cooper, Deborah, Gearing, Marla , Julien, Jean‐Pierre , Glass, Jonathan D. , Li, Yingjie , Rothstein, Jeffrey D. , Boylan, Khrista
Proceedings of the National Academy of Sciences | March 20, 2012 | Volume: 109 | Issue: 14 | Pages: 5505-5510
Mutations in the gene encoding superoxide dismutase 1 (SOD1) account for about 20% of the cases of familial amyotrophic lateral sclerosis (fALS). It is not known how the mutant protein causes disease, or why only a subset of cell types (motor neurons) are targeted. The aggregation and misfolding of mutant SOD1 are implicated in disease pathogenesis in both animal models and humans. We used a monoclonal antibody, C4F6, which specifically reacts with mutant and/or “misfolded” SOD1, to investigate the regional distribution of mutant SOD1 protein in rodent and human tissues. C4F6 reacted only with mutant SOD1 and showed remarkable selectivity for disease-affected tissues and cells. Tissue not affected by disease but containing high levels of mutant protein (sensory neurons) did not stain with C4F6. Additionally, C4F6 intensely stained some motor neurons while leaving adjacent motor neurons unstained. Although C4F6 was generated against the G93A SOD1 mutant, it also recognized other SOD1 mutants. In human autopsy tissues from patients carrying SOD1 mutations, C4F6 identified skein-like intracellular inclusions in motor neurons, similar to those seen in rodents, and again stained only a subset of motor neurons. In spinal cords from patients with sporadic ALS, other neurodegenerative diseases, and normal controls, C4F6-immunoreactive inclusions were not detected, but the antibody did reveal diffuse immunostaining of some spinal motor neurons. The ability of C4F6 to differentiate pathologically affected tissue in mutant SOD1 ALS rodent models and humans, specifically motor neuron populations, suggests that this antibody may recognize a “toxic” form of the mutant SOD1 protein.