title: Molecular basis of inherited spastic paraplegias.
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.
authors.affiliation: Human Molecular Genetics Unit, Stem Cells Research Institute (SCRI), Dibit--San Raffaele Hospital, Via Olgettina 58, 20132, Milan, Italy. casari.giorgio@hsr.it
authors.forename: G
authors.initials: G
authors.lastname: Casari
authors.forename: E
authors.initials: E
authors.lastname: Rugarli
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000818:Animals; D001369:Axons; D002135:Calcium-Binding Proteins / Q000235:genetics*; D006801:Humans; D008666:Metalloendopeptidases / Q000235:genetics*; D008928:Mitochondria / Q000378:metabolism; D009457:Neuroglia; D011712:Pyramidal Tracts / Q000002:abnormalities / Q000254:growth & development; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology; D000074181:Spastin
chemical_list: D002135:Calcium-Binding Proteins; D008666:Metalloendopeptidases; C112889:SPG7 protein, human; D000251:Adenosine Triphosphatases; D000074183:ATPases Associated with Diverse Cellular Activities; D000074181:Spastin; C400283:SPAST protein, human