Literature DB >> 10434293

Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders.

P S Harper.   

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Year:  1999        PMID： 10434293      PMCID： PMC1692597          DOI： 10.1098/rstb.1999.0446

Source DB:  PubMed          Journal:  Philos Trans R Soc Lond B Biol Sci        ISSN： 0962-8436            Impact factor:   6.237


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  9 in total

1.  Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Authors:  A R La Spada; E M Wilson; D B Lubahn; A E Harding; K H Fischbeck
Journal:  Nature       Date:  1991-07-04       Impact factor: 49.962

2.  Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.

Authors:  D C Rubinsztein; J Leggo; R Coles; E Almqvist; V Biancalana; J J Cassiman; K Chotai; M Connarty; D Crauford; A Curtis; D Curtis; M J Davidson; A M Differ; C Dode; A Dodge; M Frontali; N G Ranen; O C Stine; M Sherr; M H Abbott; M L Franz; C A Graham; P S Harper; J C Hedreen; M R Hayden
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

Review 4.  Glutamine repeats and inherited neurodegenerative diseases: molecular aspects.

Authors:  M F Perutz
Journal:  Curr Opin Struct Biol       Date:  1996-12       Impact factor: 6.809

5.  Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.

Authors:  R G Snell; J C MacMillan; J P Cheadle; I Fenton; L P Lazarou; P Davies; M E MacDonald; J F Gusella; P S Harper; D J Shaw
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

6.  Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

Authors:  H T Orr; M Y Chung; S Banfi; T J Kwiatkowski; A Servadio; A L Beaudet; A E McCall; L A Duvick; L P Ranum; H Y Zoghbi
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

7.  Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).

Authors:  R Koide; T Ikeuchi; O Onodera; H Tanaka; S Igarashi; K Endo; H Takahashi; R Kondo; A Ishikawa; T Hayashi
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

8.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

9.  Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting.

Authors:  R M Ridley; C D Frith; L A Farrer; P M Conneally
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318
  9 in total
  9 in total

1.  Modifications of p53 and the DNA damage response in cells expressing mutant form of the protein huntingtin.

Authors:  Jennifer L Illuzzi; Cassie A Vickers; Eric B Kmiec
Journal:  J Mol Neurosci       Date:  2011-04-05       Impact factor: 3.444

2.  Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes.

Authors:  Ella Dragileva; Audrey Hendricks; Allison Teed; Tammy Gillis; Edith T Lopez; Errol C Friedberg; Raju Kucherlapati; Winfried Edelmann; Kathryn L Lunetta; Marcy E MacDonald; Vanessa C Wheeler
Journal:  Neurobiol Dis       Date:  2008-09-30       Impact factor: 5.996

3.  Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.

Authors:  Meera Swami; Audrey E Hendricks; Tammy Gillis; Tiffany Massood; Jayalakshmi Mysore; Richard H Myers; Vanessa C Wheeler
Journal:  Hum Mol Genet       Date:  2009-05-23       Impact factor: 6.150

4.  Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice.

Authors:  Marina Kovalenko; Ella Dragileva; Jason St Claire; Tammy Gillis; Jolene R Guide; Jaclyn New; Hualing Dong; Raju Kucherlapati; Melanie H Kucherlapati; Michelle E Ehrlich; Jong-Min Lee; Vanessa C Wheeler
Journal:  PLoS One       Date:  2012-09-07       Impact factor: 3.240

5.  Oxidative stress and programmed cell death in yeast.

Authors:  Gianluca Farrugia; Rena Balzan
Journal:  Front Oncol       Date:  2012-06-20       Impact factor: 6.244

6.  A monoclonal antibody TrkB receptor agonist as a potential therapeutic for Huntington's disease.

Authors:  Daniel Todd; Ian Gowers; Simon J Dowler; Michael D Wall; George McAllister; David F Fischer; Sipke Dijkstra; Silvina A Fratantoni; Rhea van de Bospoort; Jessica Veenman-Koepke; Geraldine Flynn; Jamshid Arjomand; Celia Dominguez; Ignacio Munoz-Sanjuan; John Wityak; Jonathan A Bard
Journal:  PLoS One       Date:  2014-02-04       Impact factor: 3.240

7.  A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice.

Authors:  Sabine M Hölter; Mary Stromberg; Marina Kovalenko; Lillian Garrett; Lisa Glasl; Edith Lopez; Jolene Guide; Alexander Götz; Wolfgang Hans; Lore Becker; Birgit Rathkolb; Jan Rozman; Anja Schrewed; Martin Klingenspor; Thomas Klopstock; Holger Schulz; Eckhard Wolf; Wolfgang Wursta; Tammy Gillis; Hiroko Wakimoto; Jonathan Seidman; Marcy E MacDonald; Susan Cotman; Valérie Gailus-Durner; Helmut Fuchs; Martin Hrabě de Angelis; Jong-Min Lee; Vanessa C Wheeler
Journal:  PLoS One       Date:  2013-11-22       Impact factor: 3.240

8.  HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction.

Authors:  Marina Kovalenko; Austen Milnerwood; James Giordano; Jason St Claire; Jolene R Guide; Mary Stromberg; Tammy Gillis; Ellen Sapp; Marian DiFiglia; Marcy E MacDonald; Jeffrey B Carroll; Jong-Min Lee; Susan Tappan; Lynn Raymond; Vanessa C Wheeler
Journal:  J Huntingtons Dis       Date:  2018

9.  Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice.

Authors:  Marina Kovalenko; Serkan Erdin; Marissa A Andrew; Jason St Claire; Melissa Shaughnessey; Leroy Hubert; João Luís Neto; Alexei Stortchevoi; Daniel M Fass; Ricardo Mouro Pinto; Stephen J Haggarty; John H Wilson; Michael E Talkowski; Vanessa C Wheeler
Journal:  Elife       Date:  2020-09-29       Impact factor: 8.140
  9 in total

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