Molecular basis of inherited spastic paraplegias
G Casari, E Rugarli - Current opinion in genetics & development, 2001 - Elsevier
G Casari, E Rugarli
Current opinion in genetics & development, 2001•ElsevierRecently, 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.
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.
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.
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