Qs in the nucleus.
The polyglutamine diseases include at least nine neurodegenerative disorders. Accumulation of mutant protein with a toxic gain-in function in the nucleus appears to be the pathological basis of these diseases. In this issue of Neuron, La Spada et al. (2001) provide insight into the cell specificity of pathology for a polyglutamine disease by relating SCA7-induced retinal degeneration to a disruption of the photoreceptor-specific transcription factor CRX.
Orr
H T
HT
Institute of Human Genetics, University of Minnesota, Mayo Mail Code 206, Minneapolis, MN 55455, USA.
D000818:Animals; D000067719:Ataxin-7; D002467:Cell Nucleus / Q000378:metabolism*; D004195:Disease Models, Animal; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology; D018398:Homeodomain Proteins / Q000502:physiology; D006801:Humans; D046911:Macromolecular Substances; D051379:Mice; D008822:Mice, Transgenic; D018598:Minisatellite Repeats; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D010455:Peptides / Q000737:chemistry*; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism; D011485:Protein Binding; D012162:Retinal Degeneration / Q000235:genetics / Q000378:metabolism; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000378:metabolism; D015534:Trans-Activators / Q000502:physiology; D014157:Transcription Factors / Q000502:physiology*; D015533:Transcriptional Activation; D018911:Trinucleotide Repeats
C000593829:ATXN7 protein, human; D000067719:Ataxin-7; C000593831:Atxn7 protein, mouse; D005136:Eye Proteins; D018398:Homeodomain Proteins; D046911:Macromolecular Substances; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D010455:Peptides; D015534:Trans-Activators; D014157:Transcription Factors; C109288:cone rod homeobox protein; C097188:polyglutamine