| Literature DB >> 10611480 |
M F Bauer1, U Rothbauer, N Mühlenbein, R J Smith, K Gerbitz, W Neupert, M Brunner, S Hofmann.
Abstract
The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene. DDP1 shows similarity to the yeast proteins Tim9, Tim10 and Tim12, components of the mitochondrial import machinery for carrier proteins. Here, we show that DDP1 belongs to a large family of evolutionarily conserved proteins. We report the identification, chromosomal localization and expressional analysis of six human family members which represent further candidate genes for neurodegenerative diseases.Entities:
Mesh：
Substances：
Year: 1999 PMID： 10611480 DOI： 10.1016/s0014-5793(99)01665-8
Source DB: PubMed Journal: FEBS Lett ISSN： 0014-5793 Impact factor: 4.124