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References

These sources were used to develop the Genetics Home Reference gene summary on the TIMM8A gene.

Binder J, Hofmann S, Kreisel S, Wöhrle JC, Bäzner H, Krauss JK, Hennerici MG, Bauer MF. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. Brain. 2003 Aug;126(Pt 8):1814-20. Epub 2003 Jun 4. Review. PubMed citation
Entrez Gene
Gene Review: Deafness-Dystonia-Optic Neuronopathy Syndrome
Jyonouchi H, Geng L, Törüner GA, Vinekar K, Feng D, Fitzgerald-Bocarsly P. Monozygous twins with a microdeletion syndrome involving BTK, DDP1, and two other genes; evidence of intact dendritic cell development and TLR responses. Eur J Pediatr. 2008 Mar;167(3):317-21. Epub 2007 May 23. PubMed citation
OMIM: TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A
Richter D, Conley ME, Rohrer J, Myers LA, Zahradka K, Kelecić J, Sertić J, Stavljenić-Rukavina A. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. Pediatr Allergy Immunol. 2001 Apr;12(2):107-11. PubMed citation
Roesch K, Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet. 2002 Mar 1;11(5):477-86. PubMed citation
Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM. The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet. 2004 Sep 15;13(18):2101-11. Epub 2004 Jul 14. PubMed citation
Sedivá A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hansíková H, Dvoráková L, Mrázová L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T, Ochs HD. Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes. J Clin Immunol. 2007 Nov;27(6):640-6. Epub 2007 Sep 12. PubMed citation


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