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Molecular basis of inherited spastic paraplegias.
- Source :
-
Current opinion in genetics & development [Curr Opin Genet Dev] 2001 Jun; Vol. 11 (3), pp. 336-42. - Publication Year :
- 2001
-
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.
- Subjects :
- ATPases Associated with Diverse Cellular Activities
Adenosine Triphosphatases metabolism
Animals
Axons
Humans
Mitochondria metabolism
Neuroglia
Pyramidal Tracts abnormalities
Pyramidal Tracts growth & development
Spastic Paraplegia, Hereditary pathology
Spastin
Calcium-Binding Proteins genetics
Metalloendopeptidases genetics
Spastic Paraplegia, Hereditary genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0959-437X
- Volume :
- 11
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Current opinion in genetics & development
- Publication Type :
- Academic Journal
- Accession number :
- 11377972
- Full Text :
- https://doi.org/10.1016/s0959-437x(00)00199-4