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The role of spartin and its novel ubiquitin binding region in DALIS occurrence

Troyer syndrome is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations in the SPG20 gene that results in a lack of expression of the truncated protein. Spartin is a multifunctional protein, yet only two conserved domains—a microtubule-interacting and trafficking...

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Detalles Bibliográficos
Autores principales: Karlsson, Amelia B., Washington, Jacqueline, Dimitrova, Valentina, Hooper, Christopher, Shekhtman, Alexander, Bakowska, Joanna C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Cell Biology 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3982999/
https://www.ncbi.nlm.nih.gov/pubmed/24523286
http://dx.doi.org/10.1091/mbc.E13-11-0705