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
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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ATPases Associated with Diverse Cellular Activities
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Adenosine Triphosphatases / metabolism
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Animals
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Axons
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Calcium-Binding Proteins / genetics*
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Humans
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Metalloendopeptidases / genetics*
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Mitochondria / metabolism
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Neuroglia
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Pyramidal Tracts / abnormalities
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Pyramidal Tracts / growth & development
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Spastic Paraplegia, Hereditary / genetics*
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Spastic Paraplegia, Hereditary / pathology
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Spastin
Substances
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Calcium-Binding Proteins
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Metalloendopeptidases
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SPG7 protein, human
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Adenosine Triphosphatases
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ATPases Associated with Diverse Cellular Activities
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Spastin
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SPAST protein, human