Browsing by Author "MacDonald, Marcy"

Now showing items 1-17 of 17

    • A Broad Phenotypic Screen Identifies Novel Phenotypes Driven by a Single Mutant Allele in Huntington’s Disease CAG Knock-In Mice 

      Hölter, Sabine M.; Stromberg, Mary; Kovalenko, Marina; Garrett, Lillian; Glasl, Lisa; Lopez, Edith; Guide, Jolene; Götz, Alexander; Hans, Wolfgang; Becker, Lore; Rathkolb, Birgit; Rozman, Jan; Schrewed, Anja; Klingenspor, Martin; Klopstock, Thomas; Schulz, Holger; Wolf, Eckhard; Wursta, Wolfgang; Gillis, Tammy; Wakimoto, Hiroko; Seidman, Jonathan; MacDonald, Marcy E.; Cotman, Susan; Gailus-Durner, Valérie; Fuchs, Helmut; de Angelis, Martin Hrabě; Lee, Jong-Min; Wheeler, Vanessa C. (Public Library of Science, 2013)
      Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in the HTT gene encoding huntingtin. The disease has an insidious course, typically ...

    • 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 ...

    • Complex Reorganization and Predominant Non-Homologous Repair Following Chromosomal Breakage in Karyotypically Balanced Germline Rearrangements and Transgenic Integration 

      Chiang, Colby; Jacobsen, Jessie C.; Ernst, Carl; Hanscom, Carrie; Heilbut, Adrian; Blumenthal, Ian; Mills, Ryan E.; Kirby, Andrew; Rudiger, Skye R.; McLaughlan, Clive J.; Bawden, C. Simon; Reid, Suzanne J.; Faull, Richard L. M.; Snell, Russell G.; Hall, Ira M.; Ohsumi, Toshiro K.; Shen, Yiping; Borowsky, Mark L; Daly, Mark Joseph; Lee, Charles; Morton, Cynthia Casson; MacDonald, Marcy Elizabeth; Gusella, James Francis; Talkowski, Michael Edward; Lindgren, Amelia M. (Nature Publishing Group, 2012)
      We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically-interpreted translocations and inversions. We confirm that the recently ...

    • Evolutionarily Conserved Function of Huntingtin in Cellular Dynamics Related to Cell Adhesion and the Cytoskeleton 

      Thompson, Morgan Nicole (2013-03-15)
      Huntington's disease (HD) is a rare, dominantly inherited neurodegenerative disorder characterized by progressive chorea, emotional and behavioral disturbances, and cognitive decline. The single, causative mutation is an ...

    • 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 ...

    • HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes 

      Galkina, Ekaterina I.; Shin, Aram; Coser, Kathryn R.; Shioda, Toshi; Kohane, Isaac S.; Seong, Ihn Sik; Wheeler, Vanessa C.; Gusella, James F.; MacDonald, Marcy E.; Lee, Jong-Min (Public Library of Science, 2014)
      Background: The length of the huntingtin (HTT) CAG repeat is strongly correlated with both age at onset of Huntington’s disease (HD) symptoms and age at death of HD patients. Dichotomous analysis comparing HD to controls ...

    • HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation 

      Carroll, Jeffrey B.; Deik, Amy; Fossale, Elisa; Weston, Rory M.; Guide, Jolene R.; Arjomand, Jamshid; Kwak, Seung; Clish, Clary B.; MacDonald, Marcy E. (Public Library of Science, 2015)
      The HTT CAG expansion mutation causes Huntington’s Disease and is associated with a wide range of cellular consequences, including altered metabolism. The mutant allele is expressed widely, in all tissues, but the striatum ...

    • Huntingtin Facilitates Polycomb Repressive Complex 2 

      Woda, Juliana M.; Song, Ji-Joon; Lloret, Alejandro; Abeyrathne, Priyanka D.; Gregory, Gillian; Lee, Jong-Min; Conlon, Ronald A.; Seong, Ihn Sik; Woo, Caroline; Wheeler, Vanessa Chantal; Walz, Thomas; Kingston, Robert Edward; Gusella, James Francis; MacDonald, Marcy Elizabeth (Oxford University Press, 2009)
      Huntington's disease (HD) is caused by expansion of the polymorphic polyglutamine segment in the huntingtin protein. Full-length huntingtin is thought to be a predominant HEAT repeat α-solenoid, implying a role as a ...

    • Inactivation of the Huntington's Disease Gene (Hdh) Impairs Anterior Streak Formation and Early Patterning of the Mouse Embryo 

      Woda, Juliana M; Calzonetti, Teresa; Hilditch-Maguire, Paige; Duyao, Mabel Pilar; Conlon, Ronald A; MacDonald, Marcy Elizabeth (BioMed Central, 2005)
      Background: Huntingtin, the HD gene encoded protein mutated by polyglutamine expansion in Huntington's disease, is required in extraembryonic tissues for proper gastrulation, implicating its activities in nutrition or ...

    • Metabolic disruption identified in the Huntington’s disease transgenic sheep model 

      Handley, Renee. R.; Reid, Suzanne J.; Patassini, Stefano; Rudiger, Skye R.; Obolonkin, Vladimir; McLaughlan, Clive. J.; Jacobsen, Jessie C.; Gusella, James F.; MacDonald, Marcy E.; Waldvogel, Henry J.; Bawden, C. Simon; Faull, Richard L. M.; Snell, Russell G. (Nature Publishing Group, 2016)
      Huntington’s disease (HD) is a dominantly inherited, progressive neurodegenerative disorder caused by a CAG repeat expansion within exon 1 of HTT, encoding huntingtin. There are no therapies that can delay the progression ...

    • MicroRNAs Located in the Hox Gene Clusters Are Implicated in Huntington's Disease Pathogenesis 

      Hoss, Andrew G.; Kartha, Vinay K.; Dong, Xianjun; Latourelle, Jeanne C.; Dumitriu, Alexandra; Hadzi, Tiffany C.; MacDonald, Marcy E.; Gusella, James F.; Akbarian, Schahram; Chen, Jiang-Fan; Weng, Zhiping; Myers, Richard H. (Public Library of Science, 2014)
      Transcriptional dysregulation has long been recognized as central to the pathogenesis of Huntington's disease (HD). MicroRNAs (miRNAs) represent a major system of post-transcriptional regulation, by either preventing ...

    • miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement 

      Hoss, Andrew G; Labadorf, Adam; Latourelle, Jeanne C; Kartha, Vinay K; Hadzi, Tiffany C; Gusella, James F; MacDonald, Marcy E; Chen, Jiang-Fan; Akbarian, Schahram; Weng, Zhiping; Vonsattel, Jean Paul; Myers, Richard H (BioMed Central, 2015)
      Background: MicroRNAs (miRNAs) are small non-coding RNAs that recognize sites of complementarity of target messenger RNAs, resulting in transcriptional regulation and translational repression of target genes. In Huntington’s ...

    • Modeling Rare Protein-Coding Variation to Identify Mutation-Intolerant Genes With Application to Disease 

      Samocha, Kaitlin E. (2016-05-06)
      Sequencing exomes—the 1% of the genome that codes for proteins—has increased the rate at which the genetic basis of a patient’s disease is determined. Unfortunately, when a patient does not carry a well-established pathogenic ...

    • 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 ...

    • Potential molecular consequences of transgene integration: The R6/2 mouse example 

      Jacobsen, Jessie C.; Erdin, Serkan; Chiang, Colby; Hanscom, Carrie; Handley, Renee R.; Barker, Douglas D.; Stortchevoi, Alex; Blumenthal, Ian; Reid, Suzanne J.; Snell, Russell G.; MacDonald, Marcy E.; Morton, A. Jennifer; Ernst, Carl; Gusella, James F.; Talkowski, Michael E. (Nature Publishing Group, 2017)
      Integration of exogenous DNA into a host genome represents an important route to generate animal and cellular models for exploration into human disease and therapeutic development. In most models, little is known concerning ...

    • Reversal of a Full-length Mutant Huntingtin Neuronal Cell Phenotype by Chemical Inhibitors of Polyglutamine-mediated Aggregation 

      Wang, Jin; Gines, Silvia; MacDonald, Marcy Elizabeth; Gusella, James Francis (BioMed Central, 2005)
      Background: Huntington's disease (HD) is an inherited neurodegenerative disorder triggered by an expanded polyglutamine tract in huntingtin that is thought to confer a new conformational property on this large protein. The ...

    • RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression 

      Labadorf, Adam; Hoss, Andrew G.; Lagomarsino, Valentina; Latourelle, Jeanne C.; Hadzi, Tiffany C.; Bregu, Joli; MacDonald, Marcy E.; Gusella, James F.; Chen, Jiang-Fan; Akbarian, Schahram; Weng, Zhiping; Myers, Richard H. (Public Library of Science, 2015)
      Huntington’s Disease (HD) is a devastating neurodegenerative disorder that is caused by an expanded CAG trinucleotide repeat in the Huntingtin (HTT) gene. Transcriptional dysregulation in the human HD brain has been ...