Molecular basis of inherited spastic paraplegias

Curr Opin Genet Dev. 2001 Jun;11(3):336-42. doi: 10.1016/s0959-437x(00)00199-4.

Abstract

Recently, paraplegin and spastin have been found to be mutated in two autosomal forms of hereditary spastic paraplegia. Both proteins harbour a common ATPase domain that expresses a chaperone function. Paraplegin is a nuclear-encoded mitochondrial metalloprotease, while the exact role and subcellular localisation of spastin are still unclear.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Adenosine Triphosphatases / metabolism
  • Animals
  • Axons
  • Calcium-Binding Proteins / genetics*
  • Humans
  • Metalloendopeptidases / genetics*
  • Mitochondria / metabolism
  • Neuroglia
  • Pyramidal Tracts / abnormalities
  • Pyramidal Tracts / growth & development
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology
  • Spastin

Substances

  • Calcium-Binding Proteins
  • Metalloendopeptidases
  • SPG7 protein, human
  • Adenosine Triphosphatases
  • ATPases Associated with Diverse Cellular Activities
  • Spastin
  • SPAST protein, human