Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia
Open Access
- 13 August 2008
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 17 (2), 187-194
- https://doi.org/10.1038/ejhg.2008.147
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild‐type spastin into filamentous microtubuleJournal of Neurochemistry, 2008
- Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegiaJournal of Medical Genetics, 2007
- Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severingThe Journal of cell biology, 2007
- Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole causeHuman Mutation, 2007
- AAA+ proteins: have engine, will workNature Reviews Molecular Cell Biology, 2005
- Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severingThe Journal of cell biology, 2005
- Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutationsneurogenetics, 2004
- Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detectionPrenatal Diagnosis, 2004
- Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational classJournal of Medical Genetics, 2003
- A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family membersJournal of Neurology, Neurosurgery & Psychiatry, 2001