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Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells.

Marcus D, Lichtenstein M, Saada A, Lorberboum-Galski H.

Mol Med. 2013 Jul 24;19:124-34. doi: 10.2119/molmed.2012.00343.


C6ORF66 is an assembly factor of mitochondrial complex I.

Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O.

Am J Hum Genet. 2008 Jan;82(1):32-8. doi: 10.1016/j.ajhg.2007.08.003.


Therapeutic applications of the TAT-mediated protein transduction system for complex I deficiency and other mitochondrial diseases.

Lin BY, Kao MC.

Ann N Y Acad Sci. 2015 Sep;1350:17-28. doi: 10.1111/nyas.12858. Epub 2015 Aug 14. Review.


Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG.

Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21.


Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.

Ugalde C, Janssen RJ, van den Heuvel LP, Smeitink JA, Nijtmans LG.

Hum Mol Genet. 2004 Mar 15;13(6):659-67. Epub 2004 Jan 28.


Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

Koopman WJ, Verkaart S, Visch HJ, van Emst-de Vries S, Nijtmans LG, Smeitink JA, Willems PH.

Am J Physiol Cell Physiol. 2007 Jul;293(1):C22-9. Epub 2007 Apr 11. Review.


Xenotransplantation of mitochondrial electron transfer enzyme, Ndi1, in myocardial reperfusion injury.

Perry CN, Huang C, Liu W, Magee N, Carreira RS, Gottlieb RA.

PLoS One. 2011 Feb 14;6(2):e16288. doi: 10.1371/journal.pone.0016288.


Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.

Koopman WJ, Visch HJ, Verkaart S, van den Heuvel LW, Smeitink JA, Willems PH.

Am J Physiol Cell Physiol. 2005 Oct;289(4):C881-90. Epub 2005 May 18.


A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.

Vyas PM, Tomamichel WJ, Pride PM, Babbey CM, Wang Q, Mercier J, Martin EM, Payne RM.

Hum Mol Genet. 2012 Mar 15;21(6):1230-47. doi: 10.1093/hmg/ddr554. Epub 2011 Nov 23.


Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V.

Int J Biochem Cell Biol. 2015 Aug;65:91-103. doi: 10.1016/j.biocel.2015.05.017. Epub 2015 May 27.


Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency.

Verkaart S, Koopman WJ, Cheek J, van Emst-de Vries SE, van den Heuvel LW, Smeitink JA, Willems PH.

Biochim Biophys Acta. 2007 Sep;1772(9):1041-51. Epub 2007 May 25.


Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.

Blanchet L, Buydens MC, Smeitink JA, Willems PH, Koopman WJ.

Curr Pharm Des. 2011 Dec 1;17(36):4023-33. Review.


9-polylysine protein transduction domain: enhanced penetration efficiency of superoxide dismutase into mammalian cells and skin.

Park J, Ryu J, Jin LH, Bahn JH, Kim JA, Yoon CS, Kim DW, Han KH, Eum WS, Kwon HY, Kang TC, Won MH, Kang JH, Cho SW, Choi SY.

Mol Cells. 2002 Apr 30;13(2):202-8. Retraction in: Mol Cells. 2010 Apr;29(4):433.


Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA.

Brain. 2009 Apr;132(Pt 4):833-42. doi: 10.1093/brain/awp058. Epub 2009 Mar 31. Review.


Transduction of PTEN proteins using the tat domain modulates TGF-β1-mediated signaling pathways and transdifferentiation in subconjunctival fibroblasts.

Chung EJ, Lee HK, Jung SA, Lee SJ, Chee HY, Sohn YH, Lee JH.

Invest Ophthalmol Vis Sci. 2012 Jan 25;53(1):379-86. doi: 10.1167/iovs.11-8491.


Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.

Morán M, Rivera H, Sánchez-Aragó M, Blázquez A, Merinero B, Ugalde C, Arenas J, Cuezva JM, Martín MA.

Biochim Biophys Acta. 2010 May;1802(5):443-53. doi: 10.1016/j.bbadis.2010.02.001. Epub 2010 Feb 11.


Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.

Breuer ME, Willems PH, Smeitink JA, Koopman WJ, Nooteboom M.

IUBMB Life. 2013 Mar;65(3):202-8. doi: 10.1002/iub.1127. Epub 2013 Feb 3. Review.


Targeting proteins to mitochondria using TAT.

Del Gaizo V, MacKenzie JA, Payne RM.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):170-80.


TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency.

Rapoport M, Saada A, Elpeleg O, Lorberboum-Galski H.

Mol Ther. 2008 Apr;16(4):691-7. doi: 10.1038/mt.2008.4. Epub 2008 Feb 5.

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