The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
Human deafness dystonia syndrome is a mitochondrial disease
Open accessAbstract
The human d eafness d ystonia syndrome results from the mutation of a p rotein (DDP) of unknown function. We show now that DDP is a mitochondrial protein and similar to five small proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) of the yeast mitochondrial intermembrane space. Tim9p, Tim10p, and Tim12p mediate the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane and interact structurally and functionally with Tim8p and Tim13p. DDP is most similar to Tim8p. Tim8p exists as a soluble 70-kDa complex with Tim13p and Tim9p, and deletion of Tim8p is synthetically lethal with a conditional mutation in Tim10p. The deafness dystonia syndrome thus is a novel type of mitochondrial disease that probably is caused by a defective mitochondrial protein-import system.
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Mitochondrial proteins: from biogenesis to functional networks
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Mitochondrial Function and Neurodegenerative Diseases
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Metadata
- Authors
- Koehler, C. M., Leuenberger, D., Merchant, S., Renold, A., Junne, T., & Schatz, G.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1999-03-02
- Volume
- 96
- Issue
- 5
- Pages
- 2141-2146
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2029471191
- Cited by
- 337
- References
- 24
- FWCI
- 12.29
- Type
- journal article
- Language
- en
- Open access
- green
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- Koehler, C. M., Leuenberger, D., Merchant, S., Renold, A., Junne, T., & Schatz, G. (1999). Human deafness dystonia syndrome is a mitochondrial disease. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.96.5.2141
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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