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ER network formation and membrane fusion by atlastin1/SPG3A disease variants
At least 38 distinct missense mutations in the neuronal atlastin1/SPG3A GTPase are implicated in an autosomal dominant form of hereditary spastic paraplegia (HSP), a motor-neurological disorder manifested by lower limb weakness and spasticity and length-dependent axonopathy of corticospinal motor ne...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The American Society for Cell Biology
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436774/ https://www.ncbi.nlm.nih.gov/pubmed/25761634 http://dx.doi.org/10.1091/mbc.E14-10-1447 |