Marcy MacDonald

Marcy MacDonald

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Marcy MacDonald

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Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA.

J Hum Genet 2019 Oct 11;64(10):995-1004. Epub 2019 Jul 11.

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.

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http://dx.doi.org/10.1038/s10038-019-0639-8DOI Listing
October 2019

Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites.

Hum Mol Genet 2019 Feb 15. Epub 2019 Feb 15.

Division of Neurobiology, Departments of Psychiatry, Neurology, Pharmacology, and Neuroscience, Johns Hopkins University School of Medicine, 600 North Wolfe Street, CMSC 8-121, Baltimore, Maryland 21287 USA.

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http://dx.doi.org/10.1093/hmg/ddy430DOI Listing
February 2019

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

Am J Hum Genet 2018 09 16;103(3):349-357. Epub 2018 Aug 16.

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Medical and Population Genetics Program, the Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524551/
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https://linkinghub.elsevier.com/retrieve/pii/S00029297183024
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http://dx.doi.org/10.1016/j.ajhg.2018.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128248PMC
September 2018

Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity.

Mol Ther Nucleic Acids 2018 Jun 16;11:416-428. Epub 2018 Mar 16.

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S21622531183003
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http://dx.doi.org/10.1016/j.omtn.2018.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992459PMC
June 2018

Population-specific genetic modification of Huntington's disease in Venezuela.

PLoS Genet 2018 05 11;14(5):e1007274. Epub 2018 May 11.

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965898PMC
May 2018

Haplotype-based stratification of Huntington's disease.

Eur J Hum Genet 2017 11 23;25(11):1202-1209. Epub 2017 Aug 23.

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1038/ejhg.2017.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643960PMC
November 2017

A modifier of Huntington's disease onset at the MLH1 locus.

Hum Mol Genet 2017 10;26(19):3859-3867

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/ddx286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6455020PMC
October 2017

Highly Expandable Human iPS Cell-Derived Neural Progenitor Cells (NPC) and Neurons for Central Nervous System Disease Modeling and High-Throughput Screening.

Curr Protoc Hum Genet 2017 01 11;92:21.8.1-21.8.21. Epub 2017 Jan 11.

Chemical Neurobiology Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/cphg.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5293008PMC
January 2017

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.

Hum Mol Genet 2016 10;25(20):4566-4576

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1093/hmg/ddw286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078600PMC
October 2016

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

PLoS One 2015 21;10(8):e0134465. Epub 2015 Aug 21.

Center for Human Genetic Research, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, Massachusetts, United States of America; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0134465PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546654PMC
May 2016

Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum.

J Huntingtons Dis 2014 ;3(3):261-71

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.3233/JHD-140112DOI Listing
February 2016

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.

Am J Hum Genet 2016 Feb;98(2):287-98

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Genetic Modifiers of Huntington's Disease Consortium. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746370PMC
February 2016

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

Authors:
Kevin Michael Biglan Ira Shoulson Karl Kieburtz David Oakes Elise Kayson M Aileen Shinaman Hongwei Zhao Megan Romer Anne Young Steven Hersch Jack Penney Karen Marder Jane Paulsen Kimberly Quaid Eric Siemers Caroline Tanner William Mallonee Greg Suter Richard Dubinsky Carolyn Gray Martha Nance Scott Bundlie Dawn Radtke Sandra Kostyk Corrine Baic James Caress Francis Walker Victoria Hunt Christine O'Neill Sylvain Chouinard Stewart Factor Timothy Greenamyre Cathy Wood-Siverio Jody Corey-Bloom David Song Guerry Peavy Carol Moskowitz Melissa Wesson Ali Samii Thomas Bird Hillary Lipe Karen Blindauer Frederick Marshall Carol Zimmerman Jody Goldstein Diana Rosas Peter Novak John Caviness Charles Adler Amy Duffy Vicki Wheelock Teresa Tempkin David Richman Lauren Seeberger Roger Albin Kelvin L Chou Brad Racette Joel S Perlmutter Susan Perlman Yvette Bordelon Wayne Martin Marguerite Wieler Blair Leavitt Lynn Raymond Joji Decolongon Lorne Clarke Joseph Jankovic Christine Hunter Robert A Hauser Juan Sanchez-Ramos Sarah Furtado Oksana Suchowersky Mary Lou Klimek Mark Guttman Rustom Sethna Andrew Feigin Marie Cox Barbara Shannon Alan Percy Leon Dure Madaline Harrison William Johnson Donald Higgins Eric Molho Constance Nickerson Sharon Evans Douglas Hobson Carlos Singer Nestor Galvez-Jimenez Kathleen Shannon Cynthia Comella Christopher Ross Marie H Saint-Hilaire Claudia Testa Adam Rosenblatt Penelope Hogarth William Weiner Peter Como Rajeev Kumar Candace Cotto Julie Stout Alicia Brocht Arthur Watts Shirley Eberly Christine Weaver Tatiana Foroud James Gusella Marcy MacDonald Richard Myers Stanley Fahn Clifford Shults

JAMA Neurol 2016 Jan;73(1):102-10

Department of Neuroscience, University of California, San Diego, La Jolla.

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http://dx.doi.org/10.1001/jamaneurol.2015.2736DOI Listing
January 2016

Sequence-Level Analysis of the Major European Huntington Disease Haplotype.

Am J Hum Genet 2015 Sep 27;97(3):435-44. Epub 2015 Aug 27.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564985PMC
September 2015

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.

Bipolar Disord 2015 Jun 26;17(4):403-8. Epub 2015 Feb 26.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1111/bdi.12289DOI Listing
June 2015

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

Am J Med Genet B Neuropsychiatr Genet 2015 Mar 5;168B(2):135-43. Epub 2015 Feb 5.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA; UnIGENe, IBMC-Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1002/ajmg.b.32289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006842PMC
March 2015

The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development.

Hum Mol Genet 2015 Jan 28;24(2):330-45. Epub 2014 Aug 28.

Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddu446DOI Listing
January 2015

Huntingtin promotes mTORC1 signaling in the pathogenesis of Huntington's disease.

Sci Signal 2014 Oct 28;7(349):ra103. Epub 2014 Oct 28.

Department of Neuroscience, The Scripps Research Institute Florida, Jupiter, FL 33458, USA.

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http://dx.doi.org/10.1126/scisignal.2005633DOI Listing
October 2014

Genetic modifiers of Huntington's disease.

Mov Disord 2014 Sep 25;29(11):1359-65. Epub 2014 Aug 25.

Molecular Neurogenetics Unit, Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mds.26001DOI Listing
September 2014

MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis.

PLoS Genet 2014 Feb 27;10(2):e1004188. Epub 2014 Feb 27.

Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America ; Genome Science Institute, Boston University School of Medicine, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937267PMC
February 2014

HD CAG-correlated gene expression changes support a simple dominant gain of function.

Hum Mol Genet 2011 Jul 2;20(14):2846-60. Epub 2011 May 2.

Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/ddr195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118763PMC
July 2011

Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis.

Hum Mol Genet 2011 Jun 29;20(12):2344-55. Epub 2011 Mar 29.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/ddr127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098733PMC
June 2011

Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum.

PLoS Genet 2011 Apr 28;7(4):e1002052. Epub 2011 Apr 28.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1002052
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http://dx.doi.org/10.1371/journal.pgen.1002052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084204PMC
April 2011

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

PLoS One 2011 Feb 17;6(2):e17118. Epub 2011 Feb 17.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0017118PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040763PMC
February 2011

Meclizine is neuroprotective in models of Huntington's disease.

Hum Mol Genet 2011 Jan 25;20(2):294-300. Epub 2010 Oct 25.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/ddq464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005902PMC
January 2011

An ovine transgenic Huntington's disease model.

Hum Mol Genet 2010 May 13;19(10):1873-82. Epub 2010 Feb 13.

Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1093/hmg/ddq063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860888PMC
May 2010

Huntington's disease: the case for genetic modifiers.

Genome Med 2009 Aug 21;1(8):80. Epub 2009 Aug 21.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, 02114, USA.

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http://dx.doi.org/10.1186/gm80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768966PMC
August 2009

Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease.

J Biol Chem 2009 Jul 11;284(27):18167-73. Epub 2009 May 11.

Sector of Neurobiology, International School for Advanced Studies, Via Beirut 2-4, 34151 Trieste, Italy.

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http://dx.doi.org/10.1074/jbc.M109.018325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709382PMC
July 2009

Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease.

Brain Pathol 2008 Apr 17;18(2):225-38. Epub 2007 Dec 17.

Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/j.1750-3639.2007.00111.xDOI Listing
April 2008

Expanding the notion of disease in Huntington's disease.

Biol Psychiatry 2007 Dec;62(12):1340

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.biopsych.2007.09.009DOI Listing
December 2007

Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.

PLoS Genet 2007 Aug 27;3(8):e135. Epub 2007 Jun 27.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.0030135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950164PMC
August 2007

Genetic criteria for Huntington's disease pathogenesis.

Brain Res Bull 2007 Apr 15;72(2-3):78-82. Epub 2006 Nov 15.

Center for Human Genetic Research, Massachusetts General Hospital, CPZN-5830, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.brainresbull.2006.10.014DOI Listing
April 2007

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

Am J Med Genet A 2007 Jan;143A(2):107-11

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital/Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.31544DOI Listing
January 2007

Huntingtin inhibits caspase-3 activation.

EMBO J 2006 Dec 23;25(24):5896-906. Epub 2006 Nov 23.

Neuroapoptosis Laboratory, Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

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http://dx.doi.org/10.1038/sj.emboj.7601445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698892PMC
December 2006

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease.

Neurobiol Dis 2006 Nov 7;24(2):280-5. Epub 2006 Sep 7.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, and Department of Neurology, Boston University School of Medicine, MA 02114, USA.

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http://dx.doi.org/10.1016/j.nbd.2006.07.008DOI Listing
November 2006

Characterization of mouse striatal precursor cell lines expressing functional dopamine receptors.

Dev Neurosci 2006 ;28(6):518-27

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

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https://www.karger.com/Article/FullText/95114
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http://dx.doi.org/10.1159/000095114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1615710PMC
November 2006

Huntington's disease: seeing the pathogenic process through a genetic lens.

Trends Biochem Sci 2006 Sep 10;31(9):533-40. Epub 2006 Jul 10.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Richard B. Simches Research Center, 185 Cambridge Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.tibs.2006.06.009DOI Listing
September 2006

Genetic analysis of the GRIK2 modifier effect in Huntington's disease.

BMC Neurosci 2006 Sep 7;7:62. Epub 2006 Sep 7.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.1186/1471-2202-7-62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1618398PMC
September 2006

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice.

Neurobiol Dis 2006 Jul 12;23(1):190-7. Epub 2006 May 12.

Maryland Psychiatric Research Center, University of Maryland School of Medicine, Baltimore, MD 21228, USA.

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http://dx.doi.org/10.1016/j.nbd.2006.02.011DOI Listing
July 2006

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.

J Biol Chem 2006 Jul 19;281(29):20483-93. Epub 2006 May 19.

Molecular Neurogenetics Unit and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1074/jbc.M602180200DOI Listing
July 2006

Discovery of bioactive small-molecule inhibitor of poly adp-ribose polymerase: implications for energy-deficient cells.

Chem Biol 2006 Jul;13(7):765-70

Massachusetts General Institute for Neurodegenerative Disease and Harvard Medical School, Department of Neurology, Massachusetts General Hospital, Charlestown, 02129, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S107455210600180
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http://dx.doi.org/10.1016/j.chembiol.2006.05.012DOI Listing
July 2006

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice.

Hum Mol Genet 2006 Jun 10;15(12):2015-24. Epub 2006 May 10.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/ddl125DOI Listing
June 2006

Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease.

Neurobiol Dis 2006 May 24;22(2):233-41. Epub 2006 Jan 24.

MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital/B114-2000, 114 16th Street, Charlestown, MA 02129-4404, USA.

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http://dx.doi.org/10.1016/j.nbd.2005.11.001DOI Listing
May 2006

Regulation of intracellular accumulation of mutant Huntingtin by Beclin 1.

J Biol Chem 2006 May 6;281(20):14474-85. Epub 2006 Mar 6.

Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1074/jbc.M600364200DOI Listing
May 2006

Late-onset and typical Huntington disease families from Crete have distinct genetic origins.

Int J Mol Med 2006 Feb;17(2):335-46

Department of Neurology, University of Crete, 71500 Heraklion, Crete, Greece.

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February 2006

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.

Hum Mol Genet 2005 Oct 22;14(19):2871-80. Epub 2005 Aug 22.

Molecular Neurogenetics UNIT, Center for Human Genetic Research, Massachusetts General Hospital, Richard B. Simches Research Center, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/ddi319DOI Listing
October 2005

Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo.

BMC Dev Biol 2005 Aug 18;5:17. Epub 2005 Aug 18.

Center for Human Genetic Research, Massachusetts General Hospital, CNY-149, Charlestown, MA 02129, USA.

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http://dx.doi.org/10.1186/1471-213X-5-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1208873PMC
August 2005