title: [The function of Huntington disease gene product (huntingtin) and the pathomechanism of Huntington disease].
abstract: The recent knowledges about the functions of huntingtin and the pathomechanism of Huntington disease are reviewed. Several binding proteins such as HAP1, ubiquitin-conjugating enzyme, HIP1, glyceraldehyde-3-phosphate-dehydrogenase(GAPDH), and cystathionine beta-synthase are identified. One of the functions of huntingtin suggested by those binding proteins is organella transport. In addition huntington binds with WW domain proteins and SH3 domain. The most exciting discovery of Huntington disease pathomechanism is identification of nuclear inclusions in transgenic mouse model of Huntington disease. The discussion about the significance of nuclear inclusion for the cell death was reviewed.
authors.affiliation: RIKEN Brain Science Institute.
authors.forename: N
authors.initials: N
authors.lastname: Nukina
mesh_terms: D019757:Carbon-Oxygen Lyases / Q000502:physiology; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase; D004268:DNA-Binding Proteins / Q000502:physiology; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000502:physiology; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000209:etiology / Q000235:genetics*; D008025:Ligases / Q000502:physiology; D009419:Nerve Tissue Proteins / Q000502:physiology*; D009687:Nuclear Proteins / Q000502:physiology*; D018911:Trinucleotide Repeats / Q000235:genetics; D044763:Ubiquitin-Conjugating Enzymes
chemical_list: D004268:DNA-Binding Proteins; C073368:HIP1 protein, human; C086055:HTT protein, human; C489536:Hip1 protein, mouse; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases; C100879:UBE2K protein, human; D044763:Ubiquitin-Conjugating Enzymes; D019757:Carbon-Oxygen Lyases; C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase; D008025:Ligases