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PMID:24676999
| Citation |
'Araki, E, Tsuboi, Y, Daechsel, J, Milnerwood, A, Vilarino-Guell, C, Fujii, N, Mishima, T, Oka, T, Hara, H, Fukae, J and Farrer, MJ (2014) A Novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. Mov. Disord. ' |
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| Abstract |
Depression, parkinsonism, and hypoventilation (Perry syndrome) or familial motor neuron disease have been linked to mutations in dynactin P150(Glued) (DCTN1). |
| Links |
PubMed Online version:10.1002/mds.25833 |
| Keywords |
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| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0007399: nervous system development |
ECO:0000315: |
P |
Figure 1E is a graphical result of the affect that a mutation in DCTN1 for p150 has on microtubule growth and communication. This is supported by the evidence that p150, when grown in the presence of microtubules, increases microtubule development. In contrast the mutant protein results in a decrease in microtubule affinity leading to neurodegeneration. |
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See also
References
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