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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...

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Detalles Bibliográficos
Autores principales: Mancuso, Giuseppe, Rugarli, Elena I
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
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