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Results: 1 to 20 of 91

Related Citations for PubMed (Select 11956200)

1.

The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space.

Hofmann S, Rothbauer U, Mühlenbein N, Neupert W, Gerbitz KD, Brunner M, Bauer MF.

J Biol Chem. 2002 Jun 28;277(26):23287-93. Epub 2002 Apr 15.

2.

Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria.

Rothbauer U, Hofmann S, Mühlenbein N, Paschen SA, Gerbitz KD, Neupert W, Brunner M, Bauer MF.

J Biol Chem. 2001 Oct 5;276(40):37327-34. Epub 2001 Aug 6.

3.

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.

Roesch K, Curran SP, Tranebjaerg L, Koehler CM.

Hum Mol Genet. 2002 Mar 1;11(5):477-86.

4.

Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.

Binder J, Hofmann S, Kreisel S, Wöhrle JC, Bäzner H, Krauss JK, Hennerici MG, Bauer MF.

Brain. 2003 Aug;126(Pt 8):1814-20. Epub 2003 Jun 4. Review.

5.

The role of the TIM8-13 complex in the import of Tim23 into mitochondria.

Paschen SA, Rothbauer U, Káldi K, Bauer MF, Neupert W, Brunner M.

EMBO J. 2000 Dec 1;19(23):6392-400.

6.

The Tim8-Tim13 complex of Neurospora crassa functions in the assembly of proteins into both mitochondrial membranes.

Hoppins SC, Nargang FE.

J Biol Chem. 2004 Mar 26;279(13):12396-405. Epub 2004 Jan 13.

7.

The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.

Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM.

Hum Mol Genet. 2004 Sep 15;13(18):2101-11. Epub 2004 Jul 14.

8.

The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom.

Bauer MF, Rothbauer U, Mühlenbein N, Smith RJ, Gerbitz K, Neupert W, Brunner M, Hofmann S.

FEBS Lett. 1999 Dec 24;464(1-2):41-7.

PMID:
10611480
9.

Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.

Blesa JR, Solano A, Briones P, Prieto-Ruiz JA, Hernández-Yago J, Coria F.

Neuromolecular Med. 2007;9(4):285-91. Epub 2007 Aug 3.

PMID:
17999202
10.

Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space.

Hofmann S, Rothbauer U, Mühlenbein N, Baiker K, Hell K, Bauer MF.

J Mol Biol. 2005 Oct 28;353(3):517-28.

PMID:
16185709
11.

A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.

Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I.

Neuromuscul Disord. 2008 Dec;18(12):979-81. doi: 10.1016/j.nmd.2008.09.009. Epub 2008 Oct 25.

PMID:
18952432
12.

Identification of Tim40 that mediates protein sorting to the mitochondrial intermembrane space.

Naoé M, Ohwa Y, Ishikawa D, Ohshima C, Nishikawa S, Yamamoto H, Endo T.

J Biol Chem. 2004 Nov 12;279(46):47815-21. Epub 2004 Sep 13.

13.

Import of small Tim proteins into the mitochondrial intermembrane space.

Lutz T, Neupert W, Herrmann JM.

EMBO J. 2003 Sep 1;22(17):4400-8.

14.

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.

Engl G, Florian S, Tranebjærg L, Rapaport D.

Hum Mol Genet. 2012 Jan 15;21(2):287-99. doi: 10.1093/hmg/ddr458. Epub 2011 Oct 7.

15.

Different import pathways through the mitochondrial intermembrane space for inner membrane proteins.

Leuenberger D, Bally NA, Schatz G, Koehler CM.

EMBO J. 1999 Sep 1;18(17):4816-22.

16.

Human deafness dystonia syndrome is a mitochondrial disease.

Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2141-6.

17.

The role of Hot13p and redox chemistry in the mitochondrial TIM22 import pathway.

Curran SP, Leuenberger D, Leverich EP, Hwang DK, Beverly KN, Koehler CM.

J Biol Chem. 2004 Oct 15;279(42):43744-51. Epub 2004 Aug 4.

18.

Mia40, a novel factor for protein import into the intermembrane space of mitochondria is able to bind metal ions.

Terziyska N, Lutz T, Kozany C, Mokranjac D, Mesecke N, Neupert W, Herrmann JM, Hell K.

FEBS Lett. 2005 Jan 3;579(1):179-84.

19.

A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.

Ezquerra M, Campdelacreu J, Muñoz E, Tolosa E, Martí MJ.

Arch Neurol. 2005 Feb;62(2):306-8.

PMID:
15710860
20.

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K.

Ophthalmic Genet. 2001 Dec;22(4):207-23.

PMID:
11803487
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