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Items: 1 to 50 of 84

1.

Corrigendum to "Mitigation of NADH:ubiquinone oxidoreductase deficiency by chronic Trolox treatment" [Biochimica et Biophysica Acta 1777/7-8 (2008) 853-859].

Koopman WJH, Verkaart S, van Emst-de Vries SE, Grefte S, Smeitink JAM, Nijtmans LGJ, Willems PHGM.

Biochim Biophys Acta Bioenerg. 2018 Dec;1859(12):1328. doi: 10.1016/j.bbabio.2018.06.003. Epub 2018 Jun 6. No abstract available.

PMID:
29883590
2.

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Distelmaier F, Janssen MCH, Rodenburg RJT, Smeitink JAM, Nijtmans LGJ.

J Pediatr. 2018 May;196:309-313.e3. doi: 10.1016/j.jpeds.2017.12.043. Epub 2018 Feb 13.

PMID:
29395179
3.

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Wintjes LT, Brink M, van den Brandt FA, Wilson C, Rodenburg RJT, Nijtmans LGJ.

Eur J Hum Genet. 2017 Nov;25(11):1273-1277. doi: 10.1038/ejhg.2017.133. Epub 2017 Aug 30.

4.

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Fung CW, Chan SH, Wong VC, Hellebrekers DME, de Coo IFM, Smeitink JAM, Rodenburg RJT, Nijtmans LGJ.

Clin Genet. 2018 Jan;93(1):111-118. doi: 10.1111/cge.13089. Epub 2017 Nov 21.

PMID:
28671271
5.

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.

Baertling F, Al-Murshedi F, Sánchez-Caballero L, Al-Senaidi K, Joshi NP, Venselaar H, van den Brand MA, Nijtmans LG, Rodenburg RJ.

Hum Mutat. 2017 Jun;38(6):692-703. doi: 10.1002/humu.23210. Epub 2017 Mar 23.

PMID:
28247525
6.

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

Baertling F, Sánchez-Caballero L, Timal S, van den Brand MA, Ngu LH, Distelmaier F, Rodenburg RJ, Nijtmans LG.

Mol Genet Metab. 2017 Mar;120(3):243-246. doi: 10.1016/j.ymgme.2016.12.005. Epub 2016 Dec 11.

PMID:
27986404
7.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A.

Am J Hum Genet. 2016 Jul 7;99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30.

8.

Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia.

Manjeri GR, Rodenburg RJ, Blanchet L, Roelofs S, Nijtmans LG, Smeitink JA, Driessen JJ, Koopman WJ, Willems PH.

J Inherit Metab Dis. 2016 Jan;39(1):59-65. doi: 10.1007/s10545-015-9885-x. Epub 2015 Aug 27.

9.

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ.

Hum Mutat. 2015 Jan;36(1):34-8. doi: 10.1002/humu.22715. Epub 2014 Nov 18.

PMID:
25339201
10.

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA.

Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9.

PMID:
25008109
11.

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR.

PLoS Genet. 2013;9(12):e1004034. doi: 10.1371/journal.pgen.1004034. Epub 2013 Dec 26.

12.

Ribosome profiling reveals features of normal and disease-associated mitochondrial translation.

Rooijers K, Loayza-Puch F, Nijtmans LG, Agami R.

Nat Commun. 2013;4:2886. doi: 10.1038/ncomms3886.

13.

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.

Nouws J, Te Brinke H, Nijtmans LG, Houten SM.

Hum Mol Genet. 2014 Mar 1;23(5):1311-9. doi: 10.1093/hmg/ddt521. Epub 2013 Oct 24.

PMID:
24158852
14.

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling.

Wessels HJ, Vogel RO, Lightowlers RN, Spelbrink JN, Rodenburg RJ, van den Heuvel LP, van Gool AJ, Gloerich J, Smeitink JA, Nijtmans LG.

PLoS One. 2013 Jul 23;8(7):e68340. doi: 10.1371/journal.pone.0068340. Print 2013.

15.

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

van Bon BW, Oortveld MA, Nijtmans LG, Fenckova M, Nijhof B, Besseling J, Vos M, Kramer JM, de Leeuw N, Castells-Nobau A, Asztalos L, Viragh E, Ruiter M, Hofmann F, Eshuis L, Collavin L, Huynen MA, Asztalos Z, Verstreken P, Rodenburg RJ, Smeitink JA, de Vries BB, Schenck A.

Hum Mol Genet. 2013 Aug 1;22(15):3138-51. doi: 10.1093/hmg/ddt170. Epub 2013 Apr 10.

PMID:
23575228
16.

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS.

Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3.

17.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP.

Hum Mol Genet. 2013 Feb 15;22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2.

PMID:
23125284
18.

Subunit-specific incorporation efficiency and kinetics in mitochondrial complex I homeostasis.

Dieteren CE, Koopman WJ, Swarts HG, Peters JG, Maczuga P, van Gemst JJ, Masereeuw R, Smeitink JA, Nijtmans LG, Willems PH.

J Biol Chem. 2012 Dec 7;287(50):41851-60. doi: 10.1074/jbc.M112.391151. Epub 2012 Oct 4.

19.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP.

Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325.

PMID:
22683713
20.

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.

Farhoud MH, Nijtmans LG, Wanders RJ, Wessels HJ, Lasonder E, Janssen AJ, Rodenburg RR, van den Heuvel LP, Smeitink JA.

Proteomics. 2012 May;12(9):1349-62. doi: 10.1002/pmic.201100326.

PMID:
22589185
21.

Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.

Valsecchi F, Monge C, Forkink M, de Groof AJ, Benard G, Rossignol R, Swarts HG, van Emst-de Vries SE, Rodenburg RJ, Calvaruso MA, Nijtmans LG, Heeman B, Roestenberg P, Wieringa B, Smeitink JA, Koopman WJ, Willems PH.

Biochim Biophys Acta. 2012 Oct;1817(10):1925-36. doi: 10.1016/j.bbabio.2012.03.006. Epub 2012 Mar 11.

22.

Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans.

van den Ecker D, van den Brand MA, Ariaans G, Hoffmann M, Bossinger O, Mayatepek E, Nijtmans LG, Distelmaier F.

Mitochondrion. 2012 May;12(3):399-405. doi: 10.1016/j.mito.2012.01.003. Epub 2012 Feb 22.

PMID:
22387847
23.

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.

Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP, Nijtmans LG, Huynen MA.

Genome Biol. 2012 Feb 22;13(2):R12. doi: 10.1186/gb-2012-13-2-r12.

24.

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.

Wanschers BF, Szklarczyk R, Pajak A, van den Brand MA, Gloerich J, Rodenburg RJ, Lightowlers RN, Nijtmans LG, Huynen MA.

Nucleic Acids Res. 2012 May;40(9):4040-51. doi: 10.1093/nar/gkr1271. Epub 2012 Jan 11.

25.

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.

Nouws J, Nijtmans LG, Smeitink JA, Vogel RO.

Brain. 2012 Jan;135(Pt 1):12-22. doi: 10.1093/brain/awr261. Epub 2011 Oct 27. Review.

PMID:
22036961
26.

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

Ngu LH, Nijtmans LG, Distelmaier F, Venselaar H, van Emst-de Vries SE, van den Brand MA, Stoltenborg BJ, Wintjes LT, Willems PH, van den Heuvel LP, Smeitink JA, Rodenburg RJ.

Biochim Biophys Acta. 2012 Feb;1822(2):168-75. doi: 10.1016/j.bbadis.2011.10.012. Epub 2011 Oct 20.

27.

Defective mitochondrial translation differently affects the live cell dynamics of complex I subunits.

Dieteren CE, Willems PH, Swarts HG, Fransen J, Smeitink JA, Koopman WJ, Nijtmans LG.

Biochim Biophys Acta. 2011 Dec;1807(12):1624-33. doi: 10.1016/j.bbabio.2011.09.013. Epub 2011 Sep 24.

28.

Solute diffusion is hindered in the mitochondrial matrix.

Dieteren CE, Gielen SC, Nijtmans LG, Smeitink JA, Swarts HG, Brock R, Willems PH, Koopman WJ.

Proc Natl Acad Sci U S A. 2011 May 24;108(21):8657-62. doi: 10.1073/pnas.1017581108. Epub 2011 May 9.

29.

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ.

Am J Hum Genet. 2011 Apr 8;88(4):488-93. doi: 10.1016/j.ajhg.2011.03.002. Epub 2011 Mar 31.

30.

NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.

Szklarczyk R, Wanschers BF, Nabuurs SB, Nouws J, Nijtmans LG, Huynen MA.

FEBS Lett. 2011 Mar 9;585(5):737-43. doi: 10.1016/j.febslet.2011.01.046. Epub 2011 Feb 22.

31.

TEFM (c17orf42) is necessary for transcription of human mtDNA.

Minczuk M, He J, Duch AM, Ettema TJ, Chlebowski A, Dzionek K, Nijtmans LG, Huynen MA, Holt IJ.

Nucleic Acids Res. 2011 May;39(10):4284-99. doi: 10.1093/nar/gkq1224. Epub 2011 Jan 28.

32.

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP.

Eur J Hum Genet. 2011 Mar;19(3):270-4. doi: 10.1038/ejhg.2010.204. Epub 2010 Dec 8.

33.

Blue native electrophoresis to study mitochondrial complex I in C. elegans.

van den Ecker D, van den Brand MA, Bossinger O, Mayatepek E, Nijtmans LG, Distelmaier F.

Anal Biochem. 2010 Dec 15;407(2):287-9. doi: 10.1016/j.ab.2010.08.009. Epub 2010 Aug 10.

PMID:
20705045
34.

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

Hoefs SJ, Skjeldal OH, Rodenburg RJ, Nedregaard B, van Kaauwen EP, Spiekerkötter U, von Kleist-Retzow JC, Smeitink JA, Nijtmans LG, van den Heuvel LP.

Mol Genet Metab. 2010 Jul;100(3):251-6. doi: 10.1016/j.ymgme.2010.03.015. Epub 2010 Mar 21.

PMID:
20382551
35.

Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation.

Koopman WJ, Nijtmans LG, Dieteren CE, Roestenberg P, Valsecchi F, Smeitink JA, Willems PH.

Antioxid Redox Signal. 2010 Jun 15;12(12):1431-70. doi: 10.1089/ars.2009.2743. Review.

PMID:
19803744
36.

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.

Wessels HJ, Vogel RO, van den Heuvel L, Smeitink JA, Rodenburg RJ, Nijtmans LG, Farhoud MH.

Proteomics. 2009 Sep;9(17):4221-8. doi: 10.1002/pmic.200900157.

PMID:
19688755
37.

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Janssen RJ, Distelmaier F, Smeets R, Wijnhoven T, Østergaard E, Jaspers NG, Raams A, Kemp S, Rodenburg RJ, Willems PH, van den Heuvel LP, Smeitink JA, Nijtmans LG.

Hum Mol Genet. 2009 Sep 15;18(18):3365-74. doi: 10.1093/hmg/ddp276. Epub 2009 Jun 12.

PMID:
19525295
38.

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.

39.

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Hoefs SJ, Dieteren CE, Rodenburg RJ, Naess K, Bruhn H, Wibom R, Wagena E, Willems PH, Smeitink JA, Nijtmans LG, van den Heuvel LP.

Hum Mutat. 2009 Jul;30(7):E728-36. doi: 10.1002/humu.21037.

PMID:
19384974
40.

Chapter 7 Tracing human mitochondrial complex I assembly by use of GFP-tagged subunits.

Dieteren CE, Koopman WJ, Nijtmans LG.

Methods Enzymol. 2009;456:133-51. doi: 10.1016/S0076-6879(08)04407-8.

PMID:
19348886
41.

Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells.

Dieteren CE, Willems PH, Vogel RO, Swarts HG, Fransen J, Roepman R, Crienen G, Smeitink JA, Nijtmans LG, Koopman WJ.

J Biol Chem. 2008 Dec 12;283(50):34753-61. doi: 10.1074/jbc.M807323200. Epub 2008 Sep 30.

42.

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C.

Hum Mol Genet. 2008 Dec 15;17(24):4001-11. doi: 10.1093/hmg/ddn303. Epub 2008 Sep 19.

PMID:
18806273
43.

Mitochondrial complex V expression and activity in cystinotic fibroblasts.

Wilmer MJ, van den Heuvel LP, Rodenburg RJ, Vogel RO, Nijtmans LG, Monnens LA, Levtchenko EN.

Pediatr Res. 2008 Nov;64(5):495-7. doi: 10.1203/PDR.0b013e318183fd67.

PMID:
18596576
44.

NDUFA2 complex I mutation leads to Leigh disease.

Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP.

Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007.

45.

Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.

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

Biochim Biophys Acta. 2008 Jul-Aug;1777(7-8):853-9. doi: 10.1016/j.bbabio.2008.03.028. Epub 2008 Apr 8. Erratum in: Biochim Biophys Acta Bioenerg. 2018 Dec;1859(12):1328.

46.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ.

J Med Genet. 2008 Mar;45(3):129-33. Epub 2007 Oct 22.

PMID:
17954552
47.

Human mitochondrial complex I assembly: a dynamic and versatile process.

Vogel RO, Smeitink JA, Nijtmans LG.

Biochim Biophys Acta. 2007 Oct;1767(10):1215-27. Epub 2007 Aug 9. Review.

48.

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.

49.

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.

Vogel RO, van den Brand MA, Rodenburg RJ, van den Heuvel LP, Tsuneoka M, Smeitink JA, Nijtmans LG.

Mol Genet Metab. 2007 Jun;91(2):176-82. Epub 2007 Mar 26.

PMID:
17383918
50.

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.

Vogel RO, Janssen RJ, van den Brand MA, Dieteren CE, Verkaart S, Koopman WJ, Willems PH, Pluk W, van den Heuvel LP, Smeitink JA, Nijtmans LG.

Genes Dev. 2007 Mar 1;21(5):615-24.

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