Spastin

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  Subject Areas on Research

  • A second leaky splice-site mutation in the spastin gene. 
  • Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia. 
  • Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 
  • Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 
  • Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. 
  • Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. 
  • Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.