Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model
SUMMARY Complex I deficiencies are the most common causes of mitochondrial disorders. They can result from mutations not only in the structural subunits but also in a growing number of known assembly factors. A branch-site mutation in the human gene encoding assembly factor NUBPL has recently been a...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
The Company of Biologists
2013-09-01
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| Series: | Disease Models & Mechanisms |
| Online Access: | http://dmm.biologists.org/content/6/5/1279 |