Novel spastin mutations and their expression analysis in two Italian families
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5201027.pdf
Reference5 articles.
1. Hazan J, Fonknechten N, Mavel D et al: Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999; 23: 296–303.
2. Fonknechten N, Mavel D, Byrne P et al: Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000; 9: 637–644.
3. Charvin D, Cifuentes-Diaz C, Fonknechten N et al: Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum Mol Genet 2003; 12: 71–78.
4. Errico A, Ballabio A, Rugarli EI: Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 2002; 11: 153–156.
5. Morrone A, Pegoraro E, Angelini C, Zammarchi C, Marconi G, Hoffman EP: RNA metabolism in myotonic dystrophy. Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. J Clin Invest 1997; 99: 1691–1698.
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2. Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males;Journal of the Neurological Sciences;2011-07
3. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia;BMC Neurology;2010-10-08
4. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations;Journal of Neurology, Neurosurgery & Psychiatry;2010-06-20
5. Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia;Human Molecular Genetics;2010-02-13
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