Literature DB >> 9211187

Kennedy disease.

K H Fischbeck1.   

Abstract

Kennedy disease is a disorder with progressive motor neuron degeneration that is caused by trinucleotide repeat expansion in the androgen receptor gene. The disease mechanism likely involves toxicity of an expanded polyglutamine tract in the androgen receptor protein. This mechanism is probably shared by other neurodegenerative disorders with polyglutamine expansion, including Huntington disease. Attempts at reproducing the Kennedy disease phenotype by introducing the expanded androgen receptor into cultured neuronal cells and transgenic animals have thus far been unsuccessful, but recently developed model systems with other expanded polyglutamine constructs should allow the pathogenesis of these diseases to be elucidated.

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Year:  1997        PMID: 9211187     DOI: 10.1023/a:1005344403603

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  21 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.  Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups.

Authors:  A Edwards; H A Hammond; L Jin; C T Caskey; R Chakraborty
Journal:  Genomics       Date:  1992-02       Impact factor: 5.736

3.  Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo.

Authors:  H Ikeda; M Yamaguchi; S Sugai; Y Aze; S Narumiya; A Kakizuka
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

4.  Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system.

Authors:  B P Brooks; H L Paulson; D E Merry; E F Salazar-Grueso; A O Brinkmann; E M Wilson; K H Fischbeck
Journal:  Neurobiol Dis       Date:  1997       Impact factor: 5.996

5.  X-linked recessive bulbospinal neuronopathy. A clinicopathological study.

Authors:  G Sobue; Y Hashizume; E Mukai; M Hirayama; T Mitsuma; A Takahashi
Journal:  Brain       Date:  1989-02       Impact factor: 13.501

6.  Reduced androgen receptor gene expression with first exon CAG repeat expansion.

Authors:  C S Choong; J A Kemppainen; Z X Zhou; E M Wilson
Journal:  Mol Endocrinol       Date:  1996-12

7.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Authors:  Y Kawaguchi; T Okamoto; M Taniwaki; M Aizawa; M Inoue; S Katayama; H Kawakami; S Nakamura; M Nishimura; I Akiguchi
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

8.  SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat.

Authors:  E N Burright; H B Clark; A Servadio; T Matilla; R M Feddersen; W S Yunis; L A Duvick; H Y Zoghbi; H T Orr
Journal:  Cell       Date:  1995-09-22       Impact factor: 41.582

9.  X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding.

Authors:  C L Warner; J E Griffin; J D Wilson; L D Jacobs; K R Murray; K H Fischbeck; D Dickoff; R C Griggs
Journal:  Neurology       Date:  1992-11       Impact factor: 9.910

10.  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

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  33 in total

Review 1.  Dependence receptors: between life and death.

Authors:  P Mehlen; C Thibert
Journal:  Cell Mol Life Sci       Date:  2004-08       Impact factor: 9.261

2.  Difference in chronological changes of outcome measures between untreated and placebo-treated patients of spinal and bulbar muscular atrophy.

Authors:  Atsushi Hashizume; Masahisa Katsuno; Haruhiko Banno; Keisuke Suzuki; Noriaki Suga; Fumiaki Tanaka; Gen Sobue
Journal:  J Neurol       Date:  2011-09-28       Impact factor: 4.849

3.  Mitochondrial dysfunction in Kennedy's disease: a new pharmacological target?

Authors:  Chong Wang; Wei Chen; Dan Miao; Jin-Tai Yu; Lan Tan
Journal:  Ann Transl Med       Date:  2015-04

4.  Androgen receptors in muscle fibers induce rapid loss of force but not mass: implications for spinal bulbar muscular atrophy.

Authors:  Kentaro Oki; Robert W Wiseman; S Marc Breedlove; Cynthia L Jordan
Journal:  Muscle Nerve       Date:  2013-04-30       Impact factor: 3.217

5.  SMRTe, a silencing mediator for retinoid and thyroid hormone receptors-extended isoform that is more related to the nuclear receptor corepressor.

Authors:  E J Park; D J Schroen; M Yang; H Li; L Li; J D Chen
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-30       Impact factor: 11.205

Review 6.  The Role of Sex and Sex Hormones in Neurodegenerative Diseases.

Authors:  Elisabetta Vegeto; Alessandro Villa; Sara Della Torre; Valeria Crippa; Paola Rusmini; Riccardo Cristofani; Mariarita Galbiati; Adriana Maggi; Angelo Poletti
Journal:  Endocr Rev       Date:  2020-04-01       Impact factor: 19.871

Review 7.  The Role of the Protein Quality Control System in SBMA.

Authors:  Paola Rusmini; Valeria Crippa; Riccardo Cristofani; Carlo Rinaldi; Maria Elena Cicardi; Mariarita Galbiati; Serena Carra; Bilal Malik; Linda Greensmith; Angelo Poletti
Journal:  J Mol Neurosci       Date:  2015-11-14       Impact factor: 3.444

8.  Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

Authors:  Davide Pareyson; Pietro Fratta; Pierre-François Pradat; Gianni Sorarù; Josef Finsterer; John Vissing; Manu E Jokela; Bjarne Udd; Albert C Ludolph; Anna Sagnelli; Patrick Weydt
Journal:  J Mol Neurosci       Date:  2016-01-07       Impact factor: 3.444

Review 9.  Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives.

Authors:  Masahisa Katsuno; Hiroaki Adachi; Fumiaki Tanaka; Gen Sobue
Journal:  J Mol Med (Berl)       Date:  2004-02-27       Impact factor: 4.599

Review 10.  Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy.

Authors:  Haruhiko Banno; Masahisa Katsuno; Keisuke Suzuki; Fumiaki Tanaka; Gen Sobue
Journal:  Int J Mol Sci       Date:  2009-03-10       Impact factor: 5.923

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