Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT (English)
- New search for: Neeve, V. C. M.
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- New search for: Boczonadi, V.
- New search for: Gomez-Duran, A.
- New search for: Griffin, H.
- New search for: Santibanez-Koref, M.
- New search for: Gaiser, U.
- New search for: Bauer, P.
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- New search for: Chinnery, P. F.
- New search for: Horvath, R.
- New search for: Neeve, V. C. M.
- New search for: Pyle, A.
- New search for: Boczonadi, V.
- New search for: Gomez-Duran, A.
- New search for: Griffin, H.
- New search for: Santibanez-Koref, M.
- New search for: Gaiser, U.
- New search for: Bauer, P.
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In:
MITOCHONDRION -AMSTERDAM-
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13
, 6
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743-748
;
2013
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ISSN:
- Article (Journal) / Print
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Title:Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
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Contributors:Neeve, V. C. M. ( author ) / Pyle, A. ( author ) / Boczonadi, V. ( author ) / Gomez-Duran, A. ( author ) / Griffin, H. ( author ) / Santibanez-Koref, M. ( author ) / Gaiser, U. ( author ) / Bauer, P. ( author ) / Tzschach, A. ( author ) / Chinnery, P. F. ( author )
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Published in:MITOCHONDRION -AMSTERDAM- ; 13, 6 ; 743-748
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Publisher:
- New search for: Elsevier Science B.V., Amsterdam.
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Publication date:2013-01-01
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Size:6 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 571.6
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Classification:
DDC: 571.6 -
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© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 13, Issue 6
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 559
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A mitochondrial DNA variant 10398G>A in breast cancer among South Indians: An original study with meta-analysisFrancis, A. / Pooja, S. / Rajender, S. / Govindaraj, P. / Tipirisetti, N. R. / Surekha, D. / Rao, D. R. / Rao, L. / Ramachandra, L. / Vishnupriya, S. et al. | 2013
- 566
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Light activation of the insulin receptor regulates mitochondrial hexokinase. A possible mechanism of retinal neuroprotectionRajala, A. / Gupta, V. K. / Anderson, R. E. / Rajala, R. V. S. et al. | 2013
- 577
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Mitochondrial retrograde signaling at the crossroads of tumor bioenergetics, genetics and epigeneticsGuha, M. / Avadhani, N. G. et al. | 2013
- 592
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Exonuclease of human DNA polymerase gamma disengages its strand displacement functionHe, Q. / Shumate, C. K. / White, M. A. / Molineux, I. J. / Yin, Y. W. et al. | 2013
- 602
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Type II Fp of human mitochondrial respiratory complex II and its role in adaptation to hypoxia and nutrition-deprived conditionsSakai, C. / Tomitsuka, E. / Miyagishi, M. / Harada, S. / Kita, K. et al. | 2013
- 610
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Mitochondrial targeting functional peptides as potential devices for the mitochondrial delivery of a DF-MITO-PorterKawamura, E. / Yamada, Y. / Harashima, H. et al. | 2013
- 615
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Enzymes involved in l-lactate metabolism in humansAdeva, M. / Gonzalez-Lucan, M. / Seco, M. / Donapetry, C. et al. | 2013
- 630
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Plasmodium falciparum mitochondrial genetic diversity exhibits isolation-by-distance patterns supporting a sub-Saharan African originTanabe, K. / Jombart, T. / Horibe, S. / Palacpac, N. M. Q. / Honma, H. / Tachibana, S. I. / Nakamura, M. / Horii, T. / Kishino, H. / Mita, T. et al. | 2013
- 637
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Berberine reverts hepatic mitochondrial dysfunction in high-fat fed rats: A possible role for SirT3 activationTeodoro, J. S. / Duarte, F. V. / Gomes, A. P. / Varela, A. T. / Peixoto, F. M. / Rolo, A. P. / Palmeira, C. M. et al. | 2013
- 647
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Impact of low temperature on splicing of atypical group II introns in wheat mitochondriaDalby, S. J. / Bonen, L. et al. | 2013
- 656
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A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasmsWray, C. D. / Friederich, M. W. / du Sart, D. / Pantaleo, S. / Smet, J. / Kucera, C. / Fenton, L. / Scharer, G. / Van Coster, R. / Van Hove, J. L. K. et al. | 2013
- 662
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A bioenergetic profile of non-transformed fibroblasts uncovers a link between death-resistance and enhanced spare respiratory capacityNickens, K. P. / Wikstrom, J. D. / Shirihai, O. S. / Patierno, S. R. / Ceryak, S. et al. | 2013
- 668
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Evolutionarily conserved motifs and modules in mitochondrial protein-protein interaction networksJafari, M. / Sadeghi, M. / Mirzaie, M. / Marashi, S. A. / Rezaei-Tavirani, M. et al. | 2013
- 676
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Detection of preclinically latent hyperperfusion due to stroke-like episodes by arterial spin-labeling perfusion MRI in MELAS patientsIkawa, M. / Yoneda, M. / Muramatsu, T. / Matsunaga, A. / Tsujikawa, T. / Yamamoto, T. / Kosaka, N. / Kinoshita, K. / Yamamura, O. / Hamano, T. et al. | 2013
- 681
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Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and managementfor the Mitochondrial Medicine Society Clinical Directors Working Group / Clinical Director's Work Group / Parikh, S. / Goldstein, A. / Koenig, M. K. / Scaglia, F. / Enns, G. M. / Saneto, R. et al. | 2013
- 688
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Mitochondrial translocator protein (TSPO) ligands prevent doxorubicin-induced mechanical dysfunction and cell death in isolated cardiomyocytesde Tassigny, A. d. / Assaly, R. / Schaller, S. / Pruss, R. M. / Berdeaux, A. / Morin, D. et al. | 2013
- 698
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Preventive SNP-SNP interactions in the mitochondrial displacement loop (D-loop) from chronic dialysis patientsChen, J. B. / Chuang, L. Y. / Lin, Y. D. / Liou, C. W. / Lin, T. K. / Lee, W. C. / Cheng, B. C. / Chang, H. W. / Yang, C. H. et al. | 2013
- 705
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Mitochondrial SIRT4-type proteins in Caenorhabditis elegans and mammals interact with pyruvate carboxylase and other acetylated biotin-dependent carboxylasesWirth, M. / Karaca, S. / Wenzel, D. / Ho, L. / Tishkoff, D. / Lombard, D. B. / Verdin, E. / Urlaub, H. / Jedrusik-Bode, M. / Fischle, W. et al. | 2013
- 721
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Mitochondrial DNA variations in Madras motor neuron diseaseGovindaraj, P. / Nalini, A. / Krishna, N. / Sharath, A. / Khan, N. A. / Tamang, R. / Gourie-Devi, M. / Brown, R. H. / Thangaraj, K. et al. | 2013
- 729
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Caenorhabditis elegans ATR checkpoint kinase ATL-1 influences life span through mitochondrial maintenanceSuetomi, K. / Mereiter, S. / Mori, C. / Takanami, T. / Higashitani, A. et al. | 2013
- 736
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Predicted ionisation in mitochondria and observed acute changes in the mitochondrial transcriptome after gamma irradiation: A Monte Carlo simulation and quantitative PCR studyKam, W. W. Y. / McNamara, A. L. / Lake, V. / Banos, C. / Davies, J. B. / Kuncic, Z. / Banati, R. B. et al. | 2013
- 743
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Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTNeeve, V. C. M. / Pyle, A. / Boczonadi, V. / Gomez-Duran, A. / Griffin, H. / Santibanez-Koref, M. / Gaiser, U. / Bauer, P. / Tzschach, A. / Chinnery, P. F. et al. | 2013
- 749
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A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutationsOrtega-Recalde, O. / Fonseca, D. J. / Patino, L. C. / Atuesta, J. J. / Rivera-Nieto, C. / Restrepo, C. M. / Mateus, H. E. / van der Knaap, M. S. / Laissue, P. et al. | 2013
- 755
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Dual control of mitochondrial biogenesis by sirtuin 1 and sirtuin 3Brenmoehl, J. / Hoeflich, A. et al. | 2013
- 762
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Lipidomic characterization of streptozotocin-induced heart mitochondrial dysfunctionFerreira, R. / Guerra, G. / Padrao, A. I. / Melo, T. / Vitorino, R. / Duarte, J. A. / Remiao, F. / Domingues, P. / Amado, F. / Domingues, M. R. et al. | 2013
- 772
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Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese familiesZhang, J. / Zhao, F. / Fu, Q. / Liang, M. / Tong, Y. / Liu, X. / Lin, B. / Mi, H. / Zhang, M. / Wei, Q. P. et al. | 2013
- 782
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Mitochondrial NADH:ubiquinone oxidoreductase alterations are associated with endometriosisGovatati, S. / Deenadayal, M. / Shivaji, S. / Bhanoori, M. et al. | 2013
- 791
-
Phenotype and genotype of deaf patients with combined genomic and mitochondrial inheritance modelsHuang, S. / Wang, G. / Jiang, Y. / Yuan, Y. / Han, D. / Song, Y. / Dai, P. et al. | 2013
- 795
-
Mitochondrial respiration in blood platelets of depressive patientsHroudova, J. / Fisar, Z. / Kitzlerova, E. / Zverova, M. / Raboch, J. et al. | 2013
- 801
-
Mitochondrial respiratory chain complex activity and bioenergetic alterations in human platelets derived from pre-symptomatic and symptomatic Huntington's disease carriersSilva, A. C. / Almeida, S. / Laco, M. / Duarte, A. I. / Domingues, J. / Oliveira, C. R. / Januario, C. / Rego, A. C. et al. | 2013
- 810
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The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlationPronicka, E. / Piekutowska-Abramczuk, D. / Szymanska-Debinska, T. / Bielecka, L. / Kowalski, P. / Luczak, S. / Karkucinska-Wieckowska, A. / Migdal, M. / Kubalska, J. / Zimowski, J. et al. | 2013
- 817
-
Diet influences the intake target and mitochondrial functions of Drosophila melanogaster malesPichaud, N. / Messmer, M. / Correa, C. C. / Ballard, J. W. O. et al. | 2013
- 823
-
Application of 2D BN/SDS-PAGE coupled with mass spectrometry for identification of VDAC-associated protein complexes related to mitochondrial binding sites for type I brain hexokinaseCrepaldi, C. R. / Vitale, P. A. M. / Tesch, A. C. / Laure, H. J. / Rosa, J. C. / de Cerqueira Cesar, M. et al. | 2013
- 831
-
Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndromeBadura-Stronka, M. / Wawrocka, A. / Zawieja, K. / Silska, S. / Krawczynski, M. R. et al. | 2013
- 835
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Mitochondrial response to oxidative and nitrosative stress in early stages of diabetesNoriega-Cisneros, R. / Cortes-Rojo, C. / Manzo-Avalos, S. / Clemente-Guerrero, M. / Calderon-Cortes, E. / Salgado-Garciglia, R. / Montoya-Perez, R. / Boldogh, I. / Saavedra-Molina, A. et al. | 2013
- 841
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Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal lossRoss-Cisneros, F. N. / Pan, B. X. / Silva, R. A. / Miller, N. R. / Albini, T. A. / Tranebjaerg, L. / Rendtorff, N. D. / Lodahl, M. / Moraes-Filho, M. N. / Moraes, M. N. et al. | 2013
- 846
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Positive selection along the evolution of primate mitogenomesMenezes, A. N. / Viana, M. C. / Furtado, C. / Schrago, C. G. / Seuanez, H. N. et al. | 2013
- 852
-
Hybridisation, paternal leakage and mitochondrial DNA linearization in three anomalous fish (Scombridae)Morgan, J. A. T. / Macbeth, M. / Broderick, D. / Whatmore, P. / Street, R. / Welch, D. J. / Ovenden, J. R. et al. | 2013
- 862
-
Modulation of hepatic redox status and mitochondrial metabolism by exercise: Therapeutic strategy for liver diseasesAscensao, A. / Martins, M. J. / Santos-Alves, E. / Goncalves, I. O. / Portincasa, P. / Oliveira, P. J. / Magalhaes, J. et al. | 2013
- 871
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Interactions between peptidyl tRNA hydrolase homologs and the ribosomal release factor Mrf1 in S. pombe mitochondriaDujeancourt, L. / Richter, R. / Chrzanowska-Lightowlers, Z. M. / Bonnefoy, N. / Herbert, C. J. et al. | 2013
- 881
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Polymorphic mutations in mouse mitochondrial DNA regulate a tumor phenotypeTakibuchi, G. / Imanishi, H. / Morimoto, M. / Ishikawa, K. / Nakada, K. / Toyama-Sorimachi, N. / Kikkawa, Y. / Takenaga, K. / Hayashi, J. I. et al. | 2013
- 888
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Study of insulin resistance in cybrid cells harboring diabetes-susceptible and diabetes-protective mitochondrial haplogroupsWeng, S. W. / Kuo, H. M. / Chuang, J. H. / Lin, T. K. / Huang, H. L. / Lin, H. Y. / Liou, C. W. / Wang, P. W. et al. | 2013
- 898
-
Nuclear genome transfer in human oocytes to prevent transmission of mtDNA mutationsPaull, D. / Emmanuele, V. / Sauer, M. V. / Hirano, M. / Egli, D. et al. | 2013
- 898
-
The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndromeEl-Hattab, A. W. / Emrick, L. T. / Williamson, K. C. / Craigen, W. J. / Scaglia, F. et al. | 2013
- 899
-
Serum Fibroblast Growth Factor 21 (FGF-21) levels: Is there a correlation with disease severity and disease progression in m.3243A>G carriers?Koene, S. / de Laat, P. / Vriens, D. / van Tienoven, D. H. / Brandt, A. M. / Sweep, F. C. G. J. / Borm, G. / Janssen, M. C. H. / Smeitink, J. A. M. et al. | 2013
- 899
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Towards harmonization of outcome measures in children with mitochondrial disordersKoene, S. / Jansen, M. / Verhaak, C. M. / de Vrueh, R. L. A. / de Groot, I. J. M. / Smeitink, J. A. M. et al. | 2013
- 899
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Six minute bicycling test in children with mitochondrial disorders: Feasibility, reliability, validity and responsivityKoene, S. / Jansen, M. / Wortmann, S. B. / de Vries, M. C. / de Groot, I. J. M. / Smeitink, J. et al. | 2013
- 900
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Regulation of respiration of human colorectal cancer: Application of metabolic control analysisKaldma, A. / Koit, A. / Sevtsuk, I. / Tsekulajev, V. / Tepp, K. / Timohhina, N. / Bogovskaja, J. / Valvere, V. / Saks, V. / Kaambre, j. T. et al. | 2013
- 900
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Sleep disordered breathing in children with mitochondrial diseaseMosquera, R. A. / Koenig, M. K. / Chevallier, J. / Pacheco, S. E. / Jon, C. et al. | 2013
- 901
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Chronic progressive external ophthalmoplegia - Disease mechanisms and clinical outcome measuresGriffiths, P. G. / Yu-Wai-Man, C. / Smith, F. E. / Firbank, M. J. / Guthrie, G. / Guthrie, S. / Gorman, G. S. / Taylor, R. W. / Turnbull, D. M. / Blamire, A. M. et al. | 2013
- 901
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Idebenone treatment for Leber hereditary optic neuropathy - Past, present, and futureYu-Wai-Man, P. / Klopstock, T. / Metz, G. / Buchner, B. / Gallenmuller, C. / Bailie, M. / Nwali, N. / Griffiths, P. G. / von Livonius, B. / Reznicek, L. et al. | 2013
- 902
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Resveratrol improves mitochondrial functions in respiratory chain-deficient cellsCosta, A. L. / Le Bachelier, C. / Rotig, A. / Boneh, A. / De Lonlay, P. / Tarnopolsky, M. A. / Thorburn, D. / Bastin, J. / Djouadi, F. et al. | 2013
- 902
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Redefining Wolfram syndrome in the molecular EraGuthrie, G. / Sitarz, K. S. / Pyle, A. / Horvath, R. / Griffiths, P. G. / Chinnery, P. F. / Yu-Wai-Man, P. et al. | 2013
- 902
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Defective thiolation impairs mitochondrial translation offering a therapy approach in reversible infantile respiratory chain deficiencyBoczonadi, V. / Smith, P. M. / Chinnery, P. F. / Horvath, R. et al. | 2013
- 903
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Chemically-induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cellsRiazifar, H. / Jia, Y. / Chen, J. / Lynch, G. / Huang, T. et al. | 2013
- 903
-
Photobiomodulation preserves mitochondrial redox state in a rodent model of retinitis pigmentosaEells, J. T. / Gopalakrishnan, S. / Maleki, S. / Ranji, M. / Abroe, B. / Schmitt, H. / Summerfelt, P. / Dubis, A. / Carroll, J. et al. | 2013
- 904
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Mitochondrial encephalopathies in epilepsy: A case seriesGoldstein, A. C. / Asato, M. / Bansal, L. / Vento, J. / Zuccoli, G. et al. | 2013
- 904
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Mitochondrial etiologies of chronic pseudo-obstruction and dysmotility in children: A 10year follow-up studyGoldstein, A. / Bay, C. / Sowry, E. / McDonald, L. A. / DelVecchio, M. / Vento, J. / Shanske, S. / Hirano, M. / DiLorenzo, C. et al. | 2013
- 904
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FGF-21 secretion and ketogenic enzyme expression are hallmarks of chronic energy deficiency in human skeletal muscles depleted of iron sulfur clustersCrooks, D. R. / Natarajan, T. G. / Chen, C. / Huang, H. / Ghosh, M. C. / Tong, W. H. / Haller, R. G. / Wu, C. / Rouault, T. A. et al. | 2013
- 905
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Decreased exhaled nitric oxide levels in patients with mitochondrial disordersMosquera, R. A. / Samuels, C. L. / Harris, T. S. / Yadav, A. / Hashmi, S. S. / Knight, M. S. / Jon, C. K. / Koenig, M. K. et al. | 2013
- 905
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Predisposition to infection and SIRS in oxidative phosphorylation disorders: 8years' experience of a New England cohort at Massachusetts General Hospital and partners affiliatesWalker, M. A. / Slate, N. / Lax, T. / Alejos, A. / Volpi, S. / Sweetser, D. / Sims, K. / Walter, J. E. et al. | 2013
- 906
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The need for careful diagnosis of congenital myasthenic syndromes with secondary complex I disordersMenezes, M. J. / Menezes, M. P. / Riley, L. / Cooper, S. / Christodoulou, J. et al. | 2013
- 906
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Personalized dosing of dichloroacetate based on haplotype variations glutathione transferase zeta 1Shroads, A. L. / Langaee, T. / Coats, B. / Stacpoole, P. W. et al. | 2013
- 906
-
Allotopic expression of algal ATP6 improves longevity and locomotor functions in a Drosophila mitochondrial encephalomyopathy modelChiu, W. K. (. / Palladino, M. J. et al. | 2013
- 907
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Oxidative stress triggers mitochondrial mediated retrograde signaling by activating its translocation and function switchingMiriyala, S. / Panchatcharam, M. / Batinic-Haberele, I. / Clair, D.St. et al. | 2013
- 907
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The role of an unconventional ribosomal protein in mitochondrial functionRichman, T. R. / Scott, L. / Davies, S. M. K. / Rackham, O. / Filipovska, A. et al. | 2013
- 907
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Comparative aspects of bioenergetic profiling of tumor clinical material and cell culturesShevchuk, I. / Koit, A. / Kaldmaa, A. / Timohhina, N. / Chekulayev, V. / Tepp, K. / Bogovskaja, J. / Valvere, V. / Saks, V. / Kaambre, T. et al. | 2013
- 908
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Cofactor defects as a cause of mitochondrial encephalomyopathiesMayr, J. A. / Freisinger, P. / Haack, T. / Koch, J. / Zimmermann, F. / Prokisch, H. / Sperl, W. et al. | 2013
- 908
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Effects of anesthesia in patients with primary mitochondrial disordersSong, S. / Niezgoda, J. / Parikh, S. et al. | 2013
- 909
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Role of the mitochondrial protein LRPPRC2 in Drosophila melanogasterBaggio, F. / Bratic, A. / Mourier, A. / Kukat, C. / Habermann, B. / Partridge, L. / Larsson, N. G. et al. | 2013
- 909
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Sengers syndrome is caused by a deficiency of the acylglycerol kinaseSperl, W. / Mayr, J. A. / Haack, T. B. / Zimmermann, F. A. / Meitinger, T. / Prokisch, H. et al. | 2013
- 909
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Next-generation sequencing identifies novel, potentially pathogenic variants in nuclear-encoded respiratory chain subunits not previously implicated in mitochondrial diseaseLeighton, J. W. / Penn, J. / DaRe, J. et al. | 2013
- 910
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Mitochondrial dysfunction in immune cells derived from children with autism spectrum disorder (ASD): A unique metabolic endophenotype of children with ASDFrye, R. E. / Rose, S. / Slattery, J. / Wynne, R. / Tippett, M. / Melynk, S. / James, S. J. et al. | 2013
- 910
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A specific combination of phytoestrogens ameliorates the mitochondrial dysfunction in Leber's hereditary optic neuropathyPisano, A. / Tropeano, V. / Preziuso, C. / Mancini, M. / Petruzziello, L. / Petrozza, V. / Ghelli, A. / Carelli, V. / Giordano, C. et al. | 2013
- 911
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Clinical re-sequencing for the diagnosis of mitochondrial disorders reveals high genetic heterogeneityDaRe, J. T. / Vasta, V. / Penn, J. / Leighton, J. / Hahn, S. H. et al. | 2013
- 911
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Mitochondrial myopathy presenting as acute lactic acidosis with motor and sensory axonal polyneuropathyDu, A. / Zhou, Y. / Shao, Y. / Wu, Z. et al. | 2013
- 911
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Pilot study: Modified Atkins diet trial for adult-onset mitochondrial myopathyAhola-Erkkila, S. / Auranen, M. / Isohanni, P. / Lundbom, N. / Piirila, P. / Pietilainen, K. / Suomalainen, A. et al. | 2013
- 912
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Long-term therapy with Bendavia (MTP-131), a novel mitochondria-targeting peptide, normalizes functional mitochondrial abnormalities in left ventricular myocardium of dogs with heart failureSabbah, H. N. / Gupta, R. C. / Rastogi, S. / Wang, M. / Zhang, K. et al. | 2013
- 912
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Respiratory complex I and IV dysfunction is associated with Phelan-McDermid syndromeFrye, R. E. / Damle, S. / Goldenthal, M. J. et al. | 2013
- 913
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The Mitochondrial Disease Biobank at Mayo Clinic: Three mighty years and countingHasadsri, L. / Eisenberg, L. R. / Anderson, C. / Hesemann, J. / Schultz, E. / Edwards, K. K. / Bryant, S. C. / Highsmith, W. E. / Oglesbee, D. et al. | 2013
- 913
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CHCHD2, a bi-genomic regulator of mitochondrial metabolismAras, S. / Huttemann, M. / Lee, I. / Grossman, L. I. et al. | 2013
- 914
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Region specific differences in oxidative phosphorylation in mitochondria from Ndufs4 knockout miceMorgan, P. G. / Kayser, E. B. / Sedensky, M. et al. | 2013
- 914
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A novel SUCLA2 mutation in a Portuguese patientNogueira, C. / Garcia, P. / Diogo, L. / Valongo, C. / Santorelli, F. M. / Vilarinho, L. et al. | 2013
- 915
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Capacity for oxidative phosphorylation does not decline with age in mitochondria from ndufs4 knockout miceKayser, E. B. / Johnson, S. C. / Kaeberlein, M. R. / Sedensky, M. M. / Morgan, P. G. et al. | 2013
- 915
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A mouse model of mitochondrial myopathy and sideroblastic anemiaElkes, J. / Campagna, D. R. / Carson, J. / Bykovskya, Y. / Fischel-Ghodsian, N. / Lidov, H. G. W. / Fleming, M. D. / Patton, J. R. et al. | 2013
- 916
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Elucidating the role of mitochondrial Tdp1 in response to oxidative stressFam, H. K. / Chowdhury, M. K. / Walton, C. / Choi, K. / Hendson, G. / Boerkoel, C. F. et al. | 2013
- 916
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Phenylbutyrate for therapy of pyruvate dehydrogenase complex deficiencyBourton, A. / Bonafe, L. / Baumgartner, M. / Kerr, D. / Zeviani, M. / Manco, G. / Brivet, M. / Brunetti-Pierri, N. et al. | 2013
- 916
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Dissecting the pathways to increase mitochondrial biogenesis for the treatment of mitochondrial myophathiesPeralta, S. / Moraes, C. T. et al. | 2013
- 917
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Specific reduction of mutant mitochondrial genomes load in patient-derived cells by mitoTALENsBacman, S. R. / Williams, S. L. / Pinto, M. / Peralta, S. / Moraes, C. T. et al. | 2013
- 917
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Deciphering the respiratory Complex I assembly pathwayVartak, R. / Deng, J. / Bai, Y. et al. | 2013
- 917
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Lessons learned from the analyses of 1500 mitochondrial genomes by NGSZhang, V. W. / Li, F. / Wang, G. / Truong, C. K. / Yu, H. / Chen, D. / Cui, H. / Tian, X. / Wang, H. / Landsverk, M. et al. | 2013
- 918
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Bendavia, a novel peptide that improves mitochondrial function and reverses diabetes visual declineAlam, N. / Prusky, G. et al. | 2013
- 918
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Mitochondrial insufficiency is associated with autonomic nervous system dysfunction as confirmed by physiologic Head up Tilt table test (HUTT)Numan, M. / Butler, I. / Martinez, R. / Knight, M. / Memon, N. / Koenig, M. K. et al. | 2013
- 918
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Discovery of modulators of oxygen consumption for use in mitochondrial diseaseSahdeo, S. / Cortopassi, G. et al. | 2013
- 919
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Utilization of clinical diagnostic exome sequencing for the molecular diagnosis of mitochondrial disorders and therapeutic implicationsTang, S. / Gonzalez, K. D. F. / Zeng, W. / Shahmirzadi, L. / Wei, J. J. / Li, X. / Chao, E. C. et al. | 2013
- 919
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Mitochondrial NGS panels: Is more better?Platt, J. / Cox, R. / Enns, G. M. et al. | 2013
- 920
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Bezafibrate as treatment option in patients with mitochondrial complex I deficiencyFreisinger, P. / Haberberger, B. / Strecker, V. / Steger, M. / Heim, K. / Ahting, U. / Rolinski, B. / Mayr, J. / Rotig, A. / Sperl, W. et al. | 2013
- 920
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Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseasesHaack, T. / Strom, T. / Freisinger, P. / Ahting, U. / Rolinski, B. / Mayr, J. / Sperl, W. / Meitinger, T. / Prokisch, H. et al. | 2013
- 920
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Phenotypic spectrum of 7 patients and 4 novel MTFMT mutationsFreisinger, P. / Haack, T. / Mayr, J. / Plecko, B. / Ahting, U. / Rolinski, B. / Willichowski, E. / Sperl / Prokisch, H. et al. | 2013
- 921
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Thiamine-pyrophosphokinase-deficiency: Clinical and genotypic spectrum in 5 patientsFreisinger, P. / Mayr, J. A. / Scheffner, T. / Makowski, C. / Koch, J. / Ahting, U. / Zimmermann, F. A. / Schlachter, K. / Prokisch, H. / Sperl, W. et al. | 2013
- 921
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Autosomal-recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defectWilichowski, E. / Abicht, A. / Mayr, H. / Horvath, R. / Sperl, W. / Gartner, J. et al. | 2013
- 922
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Bioenergetic profiling of human breast cancer: Unusual organization of the respiratory chainKoit, A. / Tepp, K. / Timohhina, N. / Shevchuk, I. / Chekulayev, V. / Bogovskaja, J. / Valvere, V. / Saks, V. / Kaambre, T. et al. | 2013
- 922
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Developmental exposure to ultraviolet C radiation results in altered energy production later in life in Caenorhabditis elegansRooney, J. P. / Bodhicharla, R. / Bess, A. S. / Leung, M. C. K. / Ryde, I. T. / Ji, A. Q. / Meyer, J. N. et al. | 2013
- 923
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Preserving mitochondrial function during acute coronary syndromes with the mitochondria-targeting peptide BendaviaBrown, D. A. / Patel, H. D. / Moukdar, F. / Shaikh, S. R. / Harris, M. / Fisher-Wellman, K. / Neufer, P. D. / Hale, S. L. / Dai, W. / Kloner, R. A. et al. | 2013
- 923
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Complex I and its importance in Parkinson's disease: A review of the literatureNarayanan, C. A. et al. | 2013
- 923
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Oral complex 1 inhibitory challenge reveals diverse human phenotypesBerner, J. E. et al. | 2013
- 924
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Enhanced detection sensitivity and diagnostic yield for mtDNA deletion syndrome by massively parallel sequencingWang, G. L. / Li, F. Y. / Zhang, V. W. / Wang, J. / Wong, L. J. et al. | 2013
- 924
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Targeted massively parallel sequencing detects exonic copy number changes in patients with mitochondrial disordersFeng, Y. / Wang, G. / Zhang, V. W. / Wong, L. J. et al. | 2013
- 924
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Pyrrole-imidazole polyamide, a synthetic DNA-binding compound, is effective at increasing levels of wild-type mtDNA in both cybrid cells and MELAS patient-derived fibroblast cells with the MELAS A3243G mutation by a selective promotion of wild-type replicationYano, T. / Takeuchi-Tomita, N. / Ueda, T. / Haas, R. H. et al. | 2013
- 925
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Novel c.316G>C mutation in PDHA1 causes PDH deficiencyKhouzam, A. / Platt, J. / Cox, R. / Enns, G. M. et al. | 2013
- 925
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Clinical features and progression of cardiomyopathy in patients with Friedreich's ataxiaPureza, V. / Hasadsri, L. / Highsmith, W. E. / Oglesbee, D. et al. | 2013
- 926
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Mutations in choline-O-acetyltransferase are associated with treatable cognitive decline, dysautonomia, and adverse medication responses - Time to CHAT with your patients?Wong, S. / Sheldon, K. / Boles, R. et al. | 2013
- 926
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Severe multi-systemic presentation of COX10 deficiencyWilnai, Y. / Cox, R. / Bai, R. / Enns, G. M. et al. | 2013
- 926
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La^3^+ and bivalent metals inhibited Tl^+-induced mitochondrial permeability transition poreBrailovskaya, I. V. / Konovalova, S. A. et al. | 2013
- 927
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The prevention of transmission of mitochondrial DNA mutations using pronuclear transferEngelstad, K. / Sklerov, M. / Sanford, A. / Grier, J. / Egli, D. / DiMauro, S. / Thompson, J. L. P. / Sauer, M. / Hirano, M. et al. | 2013
- 927
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Cd(2+)-induced injury of rat ascites hepatoma AS-30D cells: A possible involvement of Ca(2+)-activated large-conductance potassium channelsBelyaeva, E. A. et al. | 2013
- 928
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Development of a high-throughput screen for discovery of LHON therapeuticsDatta, S. / Cortopassi, G. et al. | 2013
- 928
-
Novel disease associations and novel disease-associated genes elucidated among MitoCarta gene sequencing in 183 probandsBoles, R. G. / Sheldon, K. M. / Trifiletti, R. R. et al. | 2013
- 928
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Multiple mtDNA heteroplasmic SNPs as a marker for mitochondrial dysfunctionZare, A. / Sheldon, K. M. / Susswein, L. / Boles, R. G. et al. | 2013
- 929
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Preterm birth is associated with mitochondrial DNA variationChalkia, D. / Lowery, R. / Derbeneva, O. / Lvova, M. / Sing, C. / Shimmin, L. / Hixson, J. / Simham, H. / Wadhwa, P. / Wallace, D. et al. | 2013
- 929
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Heteroplasmic ATPase 6 T8993A mutation and mitochondrial disease: A novel mutation present in muscle, blood, saliva, urine and fibroblastsNakayama, T. / Zolkipli, Z. / Haas, R. et al. | 2013
- 930
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Inheritance of mtDNA heteroplasmy: Does Kimura's solution work?Chalkia, D. / Wallace, D. et al. | 2013
- 930
-
The complexity of heterozygous POLG2 mutations associated with human mitochondrial diseaseYoung, M. J. / Sun, K. Y. / Humble, M. M. / Copeland, W. C. et al. | 2013
- 931
-
Generation of patient-specific differentiated cells from fibroblast-derived hiPSCs for studying treatment of mitochondrial diseaseAinza, C. A. / Le, T. / Parker, J. / Ambasudhan, R. / Nakayama, T. / Naviaux, R. K. / Lipton, S. A. / Chen, H. S. V. / Haas, R. H. et al. | 2013
- 931
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The mitochondrial gas pedal: Cytosolic calcium regulates energization of neuronal mitochondria by formation of pyruvate through the malate aspartate shuttle: Physiological and pathophysiological consequencesGellerich, F. N. / Gizatullina, Z. / Debska-Vielhaber, G. / Gaynutdinov, T. / Muth, K. / Konig, R. / Riek-Burchardt, M. / Vielhaber, S. et al. | 2013
- 932
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Analysis of mtDNA multiple deletions in 209 muscle specimens using massively parallel sequencing (MPS)Li, F. Y. / Tian, X. / Milone, M. / Cui, H. / Zhang, V. W. / Wong, L. J. et al. | 2013
- 932
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Improved diagnosis of mitochondrial disorders by next generation sequencing approachWong, L. J. / Tian, X. / Feng, Y. / Wang, J. / Zhang, V. W. et al. | 2013
- 932
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Mitochondrial gene therapy approaches for understanding and treating Leber's hereditary optic neuropathyIyer, S. / Gnaiger, E. / Rao, R. R. et al. | 2013
- 933
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Novel mutation in the mitochondrial transfer RNA^C^y^s gene in a child with vomiting and migraineAlmeida, L. S. / Martins, E. / Santorelli, F. M. / Vilarinho, L. et al. | 2013
- 933
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The effects of BDNF supplementation on polymerase gamma (POLG) 1 mutator miceSaleem, A. / Gomez, A. / Hettinga, B. / Crane, J. / Steinberg, G. / Tarnopolsky, M. A. et al. | 2013
- 934
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N-acetylcysteine reverses the mitochondrial toxicity of very long chain fatty acids (VLCFAs) in murine oligodendrocytesZhou, J. / Orchard, P. / Cloyd, J. / Kartha, R. V. et al. | 2013
- 934
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First-line genetic testing for mitochondrial disorders in the next-generation sequencing era: Comprehensive known disease gene panel or exome sequencing?Bai, R. / Haverfield, E. / Higgs, J. / Suchy, S. F. / Arjona, D. / Retterer, K. / Smaoui, N. / Richard, G. / Bale, S. / Kendall, F. D. et al. | 2013
- 935
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Failure to thrive in children with mitochondrial diseasesWolfe, L. A. / Regier, D. / Saneto, R. / Parikh, S. / Goldstein, A. / Boerkorl, N. et al. | 2013
- 935
-
Whole mitochondrial genome amplification and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 613 casesBai, R. / Higgs, J. / Suchy, S. / Arjona, D. / Smaoui, N. / Richard, G. / Compton, J. / Bale, S. / Parikh, S. / Tarnopolsky, M. et al. | 2013
- 935
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The role of Parkin in the clearance of defective mitochondria with deleted mtDNA in the CNSMilena, P. / Pickrell, A. M. / Youle, R. J. / Moraes, C. T. et al. | 2013
- 936
-
Summary of the mitochondrial findings in a series of 300 casesXu, S. / Vu, N. H. T. / Chao, E. / Simon, M. / Zoleikhaeian, M. / Kimonis, V. / Huang, T. / Mozaffar, T. / Wallace, D. C. et al. | 2013
- 936
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Adult-onset dilated cardiomyopathy as the primary manifestation of mitochondrial m.3243A>G mutation with heart-specific high mutation loadArjona, D. / Shanmugham, A. / Bai, R. / Chung, W. et al. | 2013
- 937
-
BCoR-L1: an X-linked transcriptional co-repressor in which mutations cause multi-systemic mitochondrial disease with mtDNA depletionSheldon, C. A. / Polyak, E. / Tsukikawa, M. / McCormick, E. / Place, E. / Consugar, M. / Pierce, E. / Gai, X. / Falk, M. J. et al. | 2013
- 937
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Mitochondrial dysfunction in autism fibroblastsCoskun, P. E. / Nemantinejad, Z. / Schwarts, P. H. / Brick, D. J. / Busciglio, J. et al. | 2013
- 938
-
Hepatic cirrhosis & neurological deficits in a male with de novo heteroplasmic mitochondrial DNA mutationNiyazov, D. / Serrano, M. / Reichman, T. et al. | 2013
- 938
-
Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndromeAtwal, P. S. / Schelley, S. / Enns, G. M. et al. | 2013
- 939
-
FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophyGai, X. / Ghezzi, D. / Johnson, M. A. / Biagosch, C. / Shamseldin, H. / Tsukikawa, M. / Sheldon, C. / Srinivasan, S. / Haack, T. / Gorza, M. et al. | 2013
- 939
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Acute, pharmacologic inhibition of the mitochondrial pyruvate carrier enhances cellular glucose uptake and potentiates metabolic flexibilityDivakaruni, A. S. / Wiley, S. E. / Rogers, G. W. / Simon, M. I. / Ciaraldi, T. P. / Murphy, A. N. et al. | 2013
- 940
-
Effect on glycolysis and glucose transporters of transplanted isolated normal mitochondria from MCF-12A cells into breast cancer cellsElliott, R. L. / Jiang, X. P. / Head, J. F. et al. | 2013
- 940
-
Cellular and bioenergetic dysfunction induced by loss of the Wolfram Syndrome protein, Miner1, can be reversed by treatment with N-acetylcysteineWiley, S. E. / Andreyev, A. Y. / Divakaruni, A. S. / Karisch, R. / Perkins, G. / van der Geer, P. / Tsai, T. F. / Simon, M. I. / Neel, B. G. / Dixon, J. E. et al. | 2013
- 941
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Modeling mitochondrial cardiomyopathy using human ANT1 deficient iPSC-derived cardiomyocytesOrtiz-Gonzalez, X. R. / Mills, J. A. / Wallace, D. C. et al. | 2013
- 942
-
Clinical exome sequencing leads to the diagnosis of mitochondrial complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasiaKimonis, V. / Gonzalez, K. / Zeng, W. / Gray, P. / Tang, S. / Wei, J. / Li, X. / Lu, HM. / Lu, H. / Chao, E. et al. | 2013
- 942
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The purinergic life threat response: Metabolic featuresZolkipli, Z. / Nakayama, T. / Le, T. P. / Naviaux, R. K. et al. | 2013
- 943
-
Trapping and study of individual mitochondria using nanofluidic technologyZand, K. / Pham, T. / Davila, A. / Wallace, D. / Burke, P. et al. | 2013
- 943
-
A human reprogrammed-cell model of MELASAmbasudhan, R. / Parker, J. / Ainza, C. / Dolatabadi, N. / Ryan, S. / Le, T. / Lipton, S. A. / Haas, R. H. et al. | 2013
- 943
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Therapy for mitochondrial diseases: An investigation into the potential to stimulate Parkin-mediated mitophagyPickrell, A. M. / Huang, C. H. / Pinto, M. / Moraes, C. T. / Youle, R. J. et al. | 2013
- 944
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Utilizing dynamically regulated phosphorylation as a means to modulate mitochondrial metabolismNiemi, N. M. / Pagliarini, D. J. et al. | 2013
- 944
-
A genome-wide RNAi screening to identify new genes involved in mitochondrial diseasesSanz, A. et al. | 2013
- 953
-
Corrigendum to 'Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q10 in Children with Primary Mitochondrial Diseases' [Mitochondrion 12/6 (2012) 623-629]Stacpoole, P. W. / deGrauw, T. J. / Feigenbaum, A. S. / Hoppel, C. / Kerr, D. S. / McCandless, S. E. / Miles, M. V. / Robinson, B. H. / Tang, P. H. et al. | 2013