Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene-Reference-Cited by-同舟云学术

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Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene

Published:2007-08-03 Issue:4 Volume:9 Page:285-291
ISSN:1535-1084
Container-title:NeuroMolecular Medicine
language:en
Short-container-title:Neuromol Med

Author:

Blesa José Rafael,Solano Abelardo,Briones Paz,Prieto-Ruiz Jesús Angel,Hernández-Yago José,Coria Francisco

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12017-007-8000-3.pdf

Reference34 articles.

1. Aguirre, L. A., del Castillo, I., Macaya, A., Medá, C., Villamar, M., Moreno-Pelayo, M. A., & Moreno, F. (2006). A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome. American Journal of Medical Genetics, 140, 392–397.

2. Arnoult, D., Rismanchi, N., Grodet, A., Roberts, R. G., Seeburg, D. P., Estaquier, J., Sheng, M., & Blackstone, C. (2005). Bax/Bak-dependent release of DDP/TIMM8a promotes Drp1-mediated mitochondrial fission and mitoptosis during programmed cell death. Current Biology, 15, 2112–2125.

3. Binder, J., Hofmann, S., Kreisel, S., Wöhrle, J. C., Bäzner, H., Krauss, J. K., Hennerici, M. G., & Bauer, M. F. (2003). Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. Brain, 126, 1814–1820.

4. Blesa, J. R., Prieto-Ruiz, J. A., & Hernandez-Yago, J. (2004). Conformation-sensitive gel electrophoresis as an ideal high-throughput strategy for accurate detection of sequence variations in DNA: screening hTomm and hTimm genes. Journal of Biomolecular Screening, 9, 621–624.

5. Briones, P., Vilaseca, M. A., Ribes, A., Vernet, A., Lluch, M., Cusi, V., Huckriede, A., & Agsteribbe, E. (1997). A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60. Journal of Inherited Metabolic Disease, 20, 569–577.

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