期刊
NATURE REVIEWS GENETICS
卷 10, 期 11, 页码 769-782出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg2680
关键词
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资金
- Canadian Institutes of Health
- Muscular Dystrophy Association ALS Division
- ALS Association
- ALS Society of Canada
The past few years have seen the identification of dozens of genes with causal roles in motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary spastic paraplegia. Although many additional MND genes remain to be identified, the accumulated genetic evidence has already provided new insights into MND pathogenesis, which adds to the well-established involvement of superoxide dismutase 1 (SOD1) mutations. The pathways that have been recently implicated include those that affect RNA processing, axonal transport and mitochondrial function. The functional classes of MND genes identified so far are likely to aid the selection of high-priority candidate genes for future investigation, including those for so-called sporadic cases.
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