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MeSH Review

Machado-Joseph Disease

 
 
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Disease relevance of Machado-Joseph Disease

 

High impact information on Machado-Joseph Disease

  • Protein misfolding is considered a key event in the pathogenesis of polyglutamine disease such as Machado-Joseph disease (MJD) [3].
  • Compared with ten age-matched normal controls (mean cerebellar CBF +/- SD: 66.9 +/- 6.6 ml/100 g/min), rCBF in patients with Joseph disease was significantly decreased in the cerebellum (mean +/- SD: 50.2 +/- 7.3 ml/100 g/min) [4].
  • Ataxin-3 is a protein of unknown function which is mutated in Machado-Joseph disease by expansion of a genetically unstable CAG repeat encoding polyglutamine [5].
 

Biological context of Machado-Joseph Disease

 

Anatomical context of Machado-Joseph Disease

References

 
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