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

Keywords

Machado–Joseph disease, Biology, Locus (genetics), Genetics, Gene

References

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Cited by

• Recruitment of Nonexpanded Polyglutamine Proteins to Intranuclear Aggregates in Neuronal Intranuclear Hyaline Inclusion DiseaseJunko Takahashi, Junichi Tanaka, Kimihito Arai — 2001
• Chorea Huntington Tiermodelle eröffnen neue Hypothesen zu Pathophysiologie und TherapieC. Kosinski, Jang-Ho Cha, Anne B. Young — 1999
• Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias – triple-labeling immunofluorescence studyToshiki Uchihara, Hiroto Fujigasaki, Shigeru Koyano — 2001
• Comparative sequence analysis of the human and pufferfish Huntington's disease genesSumit Sharma, Gaurav Anand, Georges Belfort — 1995
• Epidemiology and population genetics of degenerative ataxias.Jorge Sequeiros, Sandra Martins, Isabel Silveira — 2012
• Long, polymorphic microsatellites in simple organismsT Valère — 1996
• Regional and cellular expression of the dentatorubral‐pallidoluysian atrophy gene in brains of normal and affected individualsPhilip M. Ireland, Johanna Thelaus, Helen Diaper — 1997
• Identification of novel factors that promote trinucleotide repeat instabilityClaire Concannon — 2013
• A cellular model that recapitulates major pathogenic steps of Huntington's disease.Alexander Bannat, Frank Wallhoff, Gerhard Rigoll — 1998
• Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populations.Francesca Ceruti, A. R. Pinto Júnior, Ruy Inácio Neiva de Carvalho — 1999
• Metabolic characterization of spinocerebellar ataxia type 6.Васильева Нафисет Схатбиевна — 2001
• Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.María José Dilla Catalá — 2001
• Trinucleotide repeats: mechanisms and pathophysiology.Christopher J. Cummings, Huda Y. Zoghbi — 2000
• YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.Torang Naiborhu, R.M. Soedaxsono — 2002
• Spinocerebellar ataxia type 3 (Machado-Joseph disease): severe destruction of the lateral reticular nucleus.Hugh Miall — 2002
• Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21Chialin Chen, Elijah Mike, Fan Wu — 2002
• The genetic basis of hereditary ataxia.Thomas Klockgether, J. Dichgans — 1997
• Ataxin-3 Represses Transcription via Chromatin Binding, Interaction with Histone Deacetylase 3, and Histone DeacetylationАнастасия Анатольевна Ярыгина — 2006
• Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado-Joseph disease.Alejandro Nieto — 2011
• DRPLA: recent advances in research using transgenic mouse models.L.W. Deitrich — 2013

Related papers

• Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locusElspeth C. Twist, Lindsay A. Farrer, Patrick MacLeod — 1994
• The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.Giovanni Stévanin, P.S. Sousa, Géraldine Cancel‐Tassin — 1994
• DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus.R. Allan Forse, Patrick MacLeod, Jeanette J. A. Holden — 1989
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• Further refinement of the locus for Machado-Joseph disease (MJD) geneK. Endo, Hiroyasu Tanaka, Yoshihisa Takiyama — 1994
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