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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The American Society for Cell Biology
2014
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| 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 |