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Curr Opin Genet Dev. 2001 Jun;11(3):336-42.

Molecular basis of inherited spastic paraplegias.

Author information

  • 1Human Molecular Genetics Unit, Stem Cells Research Institute (SCRI), Dibit--San Raffaele Hospital, Via Olgettina 58, 20132, Milan, Italy. casari.giorgio@hsr.it

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.

PMID:
11377972
[PubMed - indexed for MEDLINE]
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