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Translocase of inner mitochondrial membrane 8 homolog A

DDP1, TIMM8A, Tim8, DFN-1, Tim8p, deafness/dystonia peptide
This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009] (from NCBI)
Top mentioned proteins: Tim13, ACID, CAN, Btk, vigilin
Papers using DDP1 antibodies
A novel insertion pathway of mitochondrial outer membrane proteins with multiple transmembrane segments
Mihara Katsuyoshi et al., In The Journal of Cell Biology, 2002
... (M2; Sigma-Aldrich), Hsp60 (Assay Designs), mHsp70 (Assay Designs), Tom20 (Santa Cruz Biotechnology, Inc.), Tom22 (Sigma-Aldrich), Tim8 (Santa Cruz Biotechnology, Inc.), cytochrome ...
Papers on DDP1
Disruption of human vigilin impairs chromosome condensation and segregation.
Qin et al., Chengdu, China. In Cell Biol Int, Nov 2015
DDP1, a vigilin's homolog, is implicated with chromatin condensation and segregation.
Polyphosphates and Polyphosphatase Activity in the Yeast Saccharomyces cerevisiae during Overexpression of the DDP1 Gene.
Kulakovskaya et al., Moscow, Russia. In Biochemistry (mosc), Oct 2015
The effects of overexpression of yeast diphosphoinositol polyphosphate phosphohydrolase (DDP1) having endopolyphosphatase activity on inorganic polyphosphate metabolism in Saccharomyces cerevisiae were studied.
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
Bhatia et al., London, United Kingdom. In Mov Disord, 2013
The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome).
Nuclear factors: roles related to mitochondrial deafness.
Yang et al., Hangzhou, China. In Gene, 2013
OPA1, TIMM8A, SMAC/DIABLO, MPV17, PDSS1, BCS1L, SUCLA2, C10ORF2, COX10, PLOG1and RRM2B are deafness-causing genes.
Isolation and characterization of a degradation product of deflazacort.
Cardoso et al., Florianópolis, Brazil. In Pharmazie, 2012
The aim of this study was to investigate and to identify the main degradation product of DFZ, and to evaluate the anti-inflammatory effect of both DFZ and its major degradation product (namely DDP1).
Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
Rapaport et al., Tübingen, Germany. In Hum Mol Genet, 2012
knockdown of the TIMM8A gene by RNA interference did not show an influence on the oxygen respiration rate and the mitochondrial membrane potentia
Identification of an evolutionarily conserved family of inorganic polyphosphate endopolyphosphatases.
Saiardi et al., London, United Kingdom. In J Biol Chem, 2011
More importantly, we demonstrate that DDP1, encoding diadenosine and diphosphoinositol phosphohydrolase, possesses a robust poly-P endopolyphosphohydrolase activity.
Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.
Oh-ishi et al., Saitama, Japan. In J Hum Genet, 2011
This can result from a gross deletion that not only involved the Bruton's tyrosine kinase (BTK) gene, but also TIMM8A, mutations in which underlie the Mohr-Tranebjærg syndrome (MTS).
Systematic screen of Schizosaccharomyces pombe deletion collection uncovers parallel evolution of the phosphate signal transduction pathway in yeasts.
Wykoff et al., Lancaster, United States. In Eukaryot Cell, 2011
Only the most upstream genes in the PHO pathway in S. cerevisiae (ADO1, DDP1, and PPN1) share a similar role in both yeasts.
Drosophila vigilin, DDP1, localises to the cytoplasm and associates to the rough endoplasmic reticulum.
Azorín et al., Barcelona, Spain. In Biochim Biophys Acta, 2011
Data show that DDP1 vastly localises to the cytoplasm, being largely excluded from the nucleus, and preferentially associates to RER and co-purifies with several ribosomal proteins.
Dampened activity of E2F1-DP and Myb-MuvB transcription factors in Drosophila endocycling cells.
Calvi et al., Syracuse, United States. In J Cell Sci, 2011
Dampened transcriptional activation by E2F1-DP and Myb-MuvB is important to repress mitosis and coordinate the endocycle transcription
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
Sadun et al., Bologna, Italy. In Biochim Biophys Acta, 2009
We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).
The Tim8-Tim13 complex has multiple substrate binding sites and binds cooperatively to Tim23.
Koehler et al., Los Angeles, United States. In J Mol Biol, 2008
The central region of Tim23, which enters the intermembrane space first, may serve to nucleate the binding of the Tim8-Tim13 complex, thereby initiating the chaperoned translocation of Tim23 to the mitochondrial inner membrane.
Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.
Coria et al., Valencia, Spain. In Neuromolecular Med, 2006
mRNA expression demonstrate increased TIMM8A mRNA levels in cultured fibroblasts from a patient with Mohr-Tranebjaerg Syndrome.
Mitochondria as the target of the pro-apoptotic protein Bax.
Vallette et al., Nantes, France. In Biochim Biophys Acta, 2006
During apoptosis, engagement of the mitochondrial pathway involves the permeabilization of the outer mitochondrial membrane (OMM), which leads to the release of cytochrome c and other apoptogenic proteins such as Smac/DIABLO, AIF, EndoG, Omi/HtraA2 and DDP/TIMM8a.
Heterochromatin: RNA points the way.
Fernandez et al., Columbia, United States. In Curr Biol, 2004
Mutation of the multi-KH domain protein DPP1, which has single-stranded nucleic acid binding activity, suppresses heterochromatin-mediated silencing in Drosophila; it also disrupts the modification of histone H3 at lysine 9, and association of heterochromatin protein 1 on the heterochromatic regions, suggesting a role for DDP1 in heterochromatin formation.
Deafness-Dystonia-Optic Neuronopathy Syndrome
Tranebjærg, Seattle, United States. In Unknown Journal, 2003
DIAGNOSIS/TESTING: DDON syndrome occurs as either a single-gene disorder resulting from mutation in TIMM8A or a contiguous gene deletion syndrome at Xq22, which also includes X-linked agammaglobulinemia caused by disruption of BTK, located telomeric to TIMM8A.
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
Vetrie et al., London, United Kingdom. In Nat Genet, 1996
This new disorder, termed Mohr-Tranebjaerg syndrome (referred to here as DFN-1/MTS) was mapped to the Xq21.3-Xq22
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