Alternative Splicing of Spg7, a Gene Involved in Hereditary Spastic Paraplegia, Encodes a Variant of Paraplegin Targeted to the Endoplasmic Reticulum

BACKGROUND: Hereditary spastic paraplegia defines a group of genetically heterogeneous diseases characterized by weakness and spasticity of the lower limbs owing to retrograde degeneration of corticospinal axons. One autosomal recessive form of the disease is caused by mutation in the SPG7 gene. Par...

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Detalles Bibliográficos
Autores principales: Mancuso, Giuseppe, Barth, Esther, Crivello, Pietro, Rugarli, Elena I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341365/
https://www.ncbi.nlm.nih.gov/pubmed/22563492
http://dx.doi.org/10.1371/journal.pone.0036337

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341365/
https://www.ncbi.nlm.nih.gov/pubmed/22563492
http://dx.doi.org/10.1371/journal.pone.0036337

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