Učitavanje...
Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin
The SPAST gene, which produces two isoforms (M1 and M87) of the microtubule-severing protein spastin, is the chief gene mutated in hereditary spastic paraplegia. Haploinsufficiency is a popular explanation for the disease, in part because most of the >200 pathogenic mutations of the gene are trun...
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| Izdano u: | Mol Biol Cell |
|---|---|
| Glavni autori: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The American Society for Cell Biology
2017
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5491181/ https://ncbi.nlm.nih.gov/pubmed/28495799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1091/mbc.E17-01-0047 |
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