Literature DB >> 8558567

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.

G Stevanin1, E Cassa, G Cancel, N Abbas, A Dürr, E Jardim, Y Agid, P S Sousa, A Brice.   

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Year:  1995        PMID： 8558567      PMCID： PMC1051713          DOI： 10.1136/jmg.32.10.827

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  28 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.  The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.

Authors:  G Stevanin; P S Sousa; G Cancel; A Dürr; O Dubourg; G A Nicholson; J Weissenbach; E Jardim; Y Agid; E Cassa
Journal:  Neurobiol Dis       Date:  1994-11       Impact factor: 5.996

Review 3.  Clinical features and classification of inherited ataxias.

Authors:  A E Harding
Journal:  Adv Neurol       Date:  1993

Review 4.  Epidemiology and clinical aspects of Machado-Joseph disease.

Authors:  J Sequeiros; P Coutinho
Journal:  Adv Neurol       Date:  1993

Review 5.  Machado-Joseph disease: an autosomal dominant motor system degeneration.

Authors:  R N Rosenberg
Journal:  Mov Disord       Date:  1992       Impact factor: 10.338

6.  Trinucleotide repeat length instability and age of onset in Huntington's disease.

Authors:  M Duyao; C Ambrose; R Myers; A Novelletto; F Persichetti; M Frontali; S Folstein; C Ross; M Franz; M Abbott
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

7.  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

8.  The gene for Machado-Joseph disease maps to human chromosome 14q.

Authors:  Y Takiyama; M Nishizawa; H Tanaka; S Kawashima; H Sakamoto; Y Karube; H Shimazaki; M Soutome; K Endo; S Ohta
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

9.  The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases.

Authors:  A Barbeau; M Roy; L Cunha; A N de Vincente; R N Rosenberg; W L Nyhan; P L MacLeod; G Chazot; L B Langston; D M Dawson
Journal:  Can J Neurol Sci       Date:  1984-11       Impact factor: 2.104

10.  A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia.

Authors:  T Burt; P Blumbergs; B Currie
Journal:  Neurology       Date:  1993-09       Impact factor: 9.910
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  4 in total

1.  Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.

Authors:  G Stevanin; A S Lebre; C Mathieux; G Cancel; N Abbas; O Didierjean; A Dürr; Y Trottier; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

2.  Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3.

Authors:  Sokol V Todi; Brett J Winborn; K Matthew Scaglione; Jessica R Blount; Sue M Travis; Henry L Paulson
Journal:  EMBO J       Date:  2009-01-15       Impact factor: 11.598

3.  Activity and cellular functions of the deubiquitinating enzyme and polyglutamine disease protein ataxin-3 are regulated by ubiquitination at lysine 117.

Authors:  Sokol V Todi; K Matthew Scaglione; Jessica R Blount; Venkatesha Basrur; Kevin P Conlon; Annalisa Pastore; Kojo Elenitoba-Johnson; Henry L Paulson
Journal:  J Biol Chem       Date:  2010-10-13       Impact factor: 5.157

Review 4.  Post-Translational Modifications of Deubiquitinating Enzymes: Expanding the Ubiquitin Code.

Authors:  Yanfeng Wang; Feng Wang
Journal:  Front Pharmacol       Date:  2021-06-10       Impact factor: 5.810
  4 in total

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