Now showing items 1-7 of 7

    • Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset 

      Ramos, Eliana Marisa; Latourelle, Jeanne C.; Gillis, Tammy; Mysore, Jayalakshmi S.; Squitieri, Ferdinando; Di Pardo, Alba; Di Donato, Stefano; Gellera, Cinzia; Hayden, Michael R.; Morrison, Patrick J.; Nance, Martha; Ross, Christopher A.; Margolis, Russell L.; Gomez-Tortosa, Estrella; Ayuso, Carmen; Suchowersky, Oksana; Trent, Ronald J.; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Jones, Randi; Ashizawa, Tetsuo; Frank, Samuel; Saint-Hilaire, Marie-Helene; Hersch, Steven M.; Rosas, Herminia D.; Lucente, Diane; Harrison, Madaline B.; Zanko, Andrea; Abramson, Ruth K.; Marder, Karen; Gusella, James F.; Lee, Jong-Min; Alonso, Isabel; Sequeiros, Jorge; Myers, Richard H.; MacDonald, Marcy E. (Springer Berlin Heidelberg, 2013)
      Huntington’s disease (HD) is a neurodegenerative disorder characterized by motor, cognitive, and behavioral disturbances. It is caused by the expansion of the HTT CAG repeat, which is the major determinant of age at onset ...
    • Genome-wide Significance for a Modifier of Age at Neurological Onset in Huntington's Disease at 6q23-24: The HD MAPS Study 

      Li, Jian-Liang; Hayden, Michael R; Warby, Simon C; Durr, Alexandra; Morrison, Patrick J; Nance, Martha; Ross, Christopher A; Margolis, Russell L; Rosenblatt, Adam; Squitieri, Ferdinando; Frati, Luigi; Gómez-Tortosa, Estrella; García, Carmen Ayuso; Suchowersky, Oksana; Klimek, Mary Lou; Trent, Ronald JA; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Paulsen, Jane S; Jones, Randi; Ashizawa, Tetsuo; Lazzarini, Alice; Prakash, Ranjana; Djoussé, Luc; Mysore, Jayalakshmi Srinidhi; Gillis, Tammy; Hakky, Michael; Cupples, L Adrienne; Saint-Hilaire, Marie H; Penney, John B; Harrison, Madaline B; Perlman, Susan L; Zanko, Andrea; Abramson, Ruth K; Lechich, Anthony J; Duckett, Ayana; Marder, Karen; Conneally, P Michael; Wheeler, Vanessa Chantal; Xu, Gang; Cha, Jang-Ho J.; Hersch, Steven M.; Gusella, James Francis; MacDonald, Marcy Elizabeth; Myers, Richard Hepworth (BioMed Central, 2006)
      Background: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to ...
    • LBH589, A Hydroxamic Acid-Derived HDAC Inhibitor, is Neuroprotective in Mouse Models of Huntington’s Disease 

      Chopra, Vanita; Quinti, Luisa; Khanna, Prarthana; Paganetti, Paolo; Kuhn, Rainer; Young, Anne B.; Kazantsev, Aleksey G.; Hersch, Steven (IOS Press, 2016)
      Background: Modulation of gene transcription by HDAC inhibitors has been shown repeatedly to be neuroprotective in cellular, invertebrate, and rodent models of Huntington’s disease (HD). It has been difficult to translate ...
    • Mechanisms of Copper Ion Mediated Huntington's Disease Progression 

      Fox, Jonathan H.; Kama, Jibrin A.; Lieberman, Gregory; Chopra, Raman; Dorsey, Kate; Volitakis, Irene; Cherny, Robert A.; Chopra, Vanita; Bush, Ashley Ian; Hersch, Steven M. (Public Library of Science, 2007)
      Huntington's disease (HD) is caused by a dominant polyglutamine expansion within the N-terminus of huntingtin protein and results in oxidative stress, energetic insufficiency and striatal degeneration. Copper and iron are ...
    • The mTOR Kinase Inhibitor Everolimus Decreases S6 Kinase Phosphorylation But Fails to Reduce Mutant Huntingtin Levels in Brain and is not Neuroprotective in the R6/2 Mouse Model of Huntington's Disease 

      Fox, Jonathan H; Connor, Teal; Dorsey, Kate; Kama, Jibrin A; Bleckmann, Dorothee; Betschart, Claudia; Hoyer, Daniel; Frentzel, Stefan; Paganetti, Paolo; Chopra, Vanita; DiFiglia, Marian; Hersch, Steven M. (BioMed Central, 2010)
      Background: Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG repeat expansion within the huntingtin gene. Mutant huntingtin protein misfolds and accumulates within neurons where it ...
    • Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset 

      Ramos, Eliana Marisa; Latourelle, Jeanne C.; Lee, Ji-Hyun; Gillis, Tammy; Mysore, Jayalakshmi S.; Squitieri, Ferdinando; Di Pardo, Alba; Di Donato, Stefano; Hayden, Michael R.; Morrison, Patrick J.; Nance, Martha; Ross, Christopher A.; Margolis, Russell L.; Gomez-Tortosa, Estrella; Ayuso, Carmen; Suchowersky, Oksana; Trent, Ronald J.; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Jones, Randi; Ashizawa, Tetsuo; Frank, Samuel; Saint-Hilaire, Marie-Helene; Hersch, Steven M.; Rosas, Herminia Diana; Lucente, Diane; Harrison, Madaline B.; Zanko, Andrea; Marder, Karen; Gusella, James Francis; Lee, Jong-Min; Alonso, Isabel; Sequeiros, Jorge; Myers, Richard Hepworth; MacDonald, Marcy Elizabeth (Springer-Verlag, 2012)
      Huntington’s disease (HD) is an inherited neurodegenerative disorder characterized by motor, cognitive and behavioral disturbances, caused by the expansion of a CAG trinucleotide repeat in the HD gene. The CAG allele size ...
    • Rho Kinase Pathway Alterations in the Brain and Leukocytes in Huntington’s Disease 

      Narayanan, K. Lakshmi; Chopra, Vanita; Rosas, H. Diana; Malarick, Keith; Hersch, Steven (Springer US, 2015)
      Huntington’s disease (HD) is a fatal neurodegenerative disease caused by an expanded polyglutamine tract in the huntingtin gene. Therapeutic approaches targeting mutant huntingtin (mtHtt) or its downstream toxic consequences ...