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A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform
BACKGROUND: Mutations in SPG4 cause the most common form of autosomal dominant hereditary spastic paraplegia, a neurodegenerative disease characterized by weakness and spasticity of the lower limbs due to degeneration of the corticospinal tract. SPG4 encodes spastin, a microtubule-severing ATPase be...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2008
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2474578/ https://www.ncbi.nlm.nih.gov/pubmed/18613979 http://dx.doi.org/10.1186/1741-7007-6-31 |