The genomic structure and expression of MJD, the Machado-Joseph disease gene

[1]  J. Sambrook,et al.  Molecular Cloning: A Laboratory Manual , 2001 .

[2]  Melvin G McInnis,et al.  Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12 , 1999, Nature Genetics.

[3]  C. Huxley,et al.  Insertion of expanded CAG trinucleotide repeat motifs into a yeast artificial chromosome containing the human Machado-Joseph disease gene. , 1999, Gene.

[4]  Sanpei Kazuhiro.  Identification of the Spinocerebellar Ataxia Type 2 Gene Using aDirect Identification of Repeat Expansion and Cloning Technique, DIRECT. , 1998 .

[5]  C. Larsson,et al.  Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13. , 1998, Genomics.

[6]  G. Fu,et al.  Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[7]  Y. Agid,et al.  Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion , 1997, Nature Genetics.

[8]  Masahiko Watanabe,et al.  Machado–Joseph disease gene products carrying different carboxyl termini , 1997, Neuroscience Research.

[9]  M. Hattori,et al.  A novel method for making nested deletions and its application for sequencing of a 300 kb region of human APP locus. , 1997, Nucleic acids research.

[10]  K. Fischbeck,et al.  Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain , 1997, Annals of neurology.

[11]  Georg Auburger,et al.  Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 , 1996, Nature Genetics.

[12]  I. Kanazawa,et al.  Regional and cellular expression of the machado‐joseph disease gene in brains of normal and affected individuals , 1996, Annals of neurology.

[13]  Yves Agid,et al.  Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats , 1996, Nature Genetics.

[14]  S. Tsuji,et al.  Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT , 1996, Nature Genetics.

[15]  M. Hayden,et al.  Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract , 1996, Nature Genetics.

[16]  K. Hashimoto,et al.  Assignment of human ADP ribosylation factor (ARF) genes ARF1 and ARF3 to chromosomes 1q42 and 12q13, respectively. , 1996, Genomics.

[17]  S. Narumiya,et al.  Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo , 1996, Nature Genetics.

[18]  S. Tsuji,et al.  Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. , 1995, American journal of human genetics.

[19]  P. D. de Jong,et al.  A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3. , 1995, Genomics.

[20]  R. Fleischmann,et al.  Whole-genome random sequencing and assembly of Haemophilus influenzae Rd. , 1995, Science.

[21]  H. Hauri,et al.  Characterization of cleavage and polyadenylation specificity factor and cloning of its 100-kilodalton subunit , 1994, Molecular and cellular biology.

[22]  R. Albin,et al.  Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues , 1993, Nature Genetics.

[23]  J. Rommens,et al.  Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression. , 1993, Human molecular genetics.

[24]  Huda Y. Zoghbi,et al.  Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 , 1993, Nature Genetics.

[25]  Manish S. Shah,et al.  A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes , 1993, Cell.

[26]  K. Fischbeck,et al.  Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy , 1991, Nature.

[27]  M. Kozak.  An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs. , 1987, Nucleic acids research.

[28]  William B. Dobyns,et al.  Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel , 1997, Nature Genetics.

[29]  O. Onodera,et al.  Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) , 1994, Nature Genetics.

[30]  Shigenobu Nakamura,et al.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 , 1994, Nature Genetics.

[31]  Harry T. Orr,et al.  Identification and characterization of the gene causing type 1 spinocerebellar ataxia , 1994, Nature Genetics.

[32]  A. Sano,et al.  Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p , 1994, Nature Genetics.