NDLI: Human deafness dystonia syndrome is a mitochondrial disease.

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Human deafness dystonia syndrome is a mitochondrial disease.

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Human deafness dystonia syndrome is a mitochondrial disease.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Merchant, S. Renold, A. Schatz, G. Leuenberger, D. Koehler, C. M. Junne, T.
Description	Author Affiliation: Koehler CM ( Biozentrum der Universität Basel, Klingelbergstrasse 70, CH-4056 Basel, Switzerland.);
Abstract	The human deafness dystonia syndrome results from the mutation of a protein (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.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	5
Volume Number	96
Language	English
Publisher	National Academy of Sciences
Publisher Date	1999-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Deafness Genetics Dystonia Escherichia Coli Proteins Membrane Transport Proteins Mitochondria Metabolism Mitochondrial Myopathies Proteins Amino Acid Sequence Carrier Proteins Chemistry DNA-Binding Proteins Fungal Proteins Intracellular Membranes Molecular Sequence Data Protein Biosynthesis Recombinant Proteins Biosynthesis Saccharomyces Cerevisiae Sequence Alignment Sequence Homology, Amino Acid Submitochondrial Particles Syndrome Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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