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Items: 1 to 50 of 282

1.

A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.

Foriel S, Renkema GH, Lasarzewski Y, Berkhout J, Rodenburg RJ, Smeitink JAM, Beyrath J, Schenck A.

Front Genet. 2019 Mar 27;10:245. doi: 10.3389/fgene.2019.00245. eCollection 2019.

2.

Live-Imaging Readouts and Cell Models for Phenotypic Profiling of Mitochondrial Function.

Iannetti EF, Prigione A, Smeitink JAM, Koopman WJH, Beyrath J, Renkema H.

Front Genet. 2019 Mar 1;10:131. doi: 10.3389/fgene.2019.00131. eCollection 2019. Review.

3.

Octa-arginine boosts the penetration of elastin-like polypeptide nanoparticles in 3D cancer models.

van Oppen LMPE, Pille J, Stuut C, van Stevendaal M, van der Vorm LN, Smeitink JAM, Koopman WJH, Willems PHGM, van Hest JCM, Brock R.

Eur J Pharm Biopharm. 2019 Apr;137:175-184. doi: 10.1016/j.ejpb.2019.02.010. Epub 2019 Feb 15.

PMID:
30776413
4.

Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.

de Laat P, Rodenburg RJ, Smeitink JAM, Janssen MCH.

Mol Genet Genomic Med. 2019 Feb;7(2):e00523. doi: 10.1002/mgg3.523. Epub 2018 Dec 4.

5.

Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD.

Iannetti EF, Smeitink JAM, Willems PHGM, Beyrath J, Koopman WJH.

Cell Death Dis. 2018 Nov 14;9(11):1135. doi: 10.1038/s41419-018-1179-4.

6.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.

Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.

7.

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
8.

KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery.

Beyrath J, Pellegrini M, Renkema H, Houben L, Pecheritsyna S, van Zandvoort P, van den Broek P, Bekel A, Eftekhari P, Smeitink JAM.

Sci Rep. 2018 Apr 26;8(1):6577. doi: 10.1038/s41598-018-24900-3.

9.

Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model.

Foriel S, Beyrath J, Eidhof I, Rodenburg RJ, Schenck A, Smeitink JAM.

Dis Model Mech. 2018 Mar 27;11(3). pii: dmm032482. doi: 10.1242/dmm.032482.

10.

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

Esterhuizen K, Lindeque JZ, Mason S, van der Westhuizen FH, Suomalainen A, Hakonen AH, Carroll CJ, Rodenburg RJ, de Laat PB, Janssen MCH, Smeitink JAM, Louw R.

Mitochondrion. 2019 Mar;45:38-45. doi: 10.1016/j.mito.2018.02.003. Epub 2018 Feb 19.

PMID:
29471047
11.

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
12.

Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism.

Allard NAE, Schirris TJJ, Verheggen RJ, Russel FGM, Rodenburg RJ, Smeitink JAM, Thompson PD, Hopman MTE, Timmers S.

J Clin Endocrinol Metab. 2018 Jan 1;103(1):75-84. doi: 10.1210/jc.2017-01561.

PMID:
29040646
13.

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease.

de Haas R, Das D, Garanto A, Renkema HG, Greupink R, van den Broek P, Pertijs J, Collin RWJ, Willems P, Beyrath J, Heerschap A, Russel FG, Smeitink JA.

Sci Rep. 2017 Sep 15;7(1):11733. doi: 10.1038/s41598-017-09417-5.

14.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Wortmann SB, Timal S, Venselaar H, Wintjes LT, Kopajtich R, Feichtinger RG, Onnekink C, Mühlmeister M, Brandt U, Smeitink JA, Veltman JA, Sperl W, Lefeber D, Pruijn G, Stojanovic V, Freisinger P, V Spronsen F, Derks TG, Veenstra-Knol HE, Mayr JA, Rötig A, Tarnopolsky M, Prokisch H, Rodenburg RJ.

Hum Mutat. 2017 Dec;38(12):1786-1795. doi: 10.1002/humu.23340. Epub 2017 Oct 6.

PMID:
28905505
15.

Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.

Lu Y, Zhao D, Yao S, Wu S, Hong D, Wang Q, Liu J, Smeitink JAM, Yuan Y, Wang Z.

J Neurol Sci. 2017 Aug 15;379:137-143. doi: 10.1016/j.jns.2017.05.056. Epub 2017 May 30.

PMID:
28716227
16.

Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function.

Panneman DM, Smeitink JA, Rodenburg RJ.

Clin Genet. 2018 May;93(5):943-951. doi: 10.1111/cge.13094. Epub 2017 Dec 11. Review.

PMID:
28686290
17.

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
18.

Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach.

Koene S, Dirks I, van Mierlo E, de Vries PR, Janssen AJWM, Smeitink JAM, Bergsma A, Essers H, Meijer K, de Groot IJM.

JIMD Rep. 2017;36:7-17. doi: 10.1007/8904_2016_35. Epub 2017 Jan 17.

19.

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? - a retrospective pilot study.

Koene S, Timmermans J, Weijers G, de Laat P, de Korte CL, Smeitink JA, Janssen MC, Kapusta L.

J Inherit Metab Dis. 2017 Mar;40(2):247-259. doi: 10.1007/s10545-016-0001-7. Epub 2017 Jan 4.

20.

Acute stimulation of glucose influx upon mitoenergetic dysfunction requires LKB1, AMPK, Sirt2 and mTOR-RAPTOR.

Liemburg-Apers DC, Wagenaars JA, Smeitink JA, Willems PH, Koopman WJ.

J Cell Sci. 2016 Dec 1;129(23):4411-4423. Epub 2016 Oct 28.

21.

Multiplexed high-content analysis of mitochondrial morphofunction using live-cell microscopy.

Iannetti EF, Smeitink JA, Beyrath J, Willems PH, Koopman WJ.

Nat Protoc. 2016 Sep;11(9):1693-710. doi: 10.1038/nprot.2016.094. Epub 2016 Aug 18.

PMID:
27560174
22.

Three families with 'de novo' m.3243A > G mutation.

de Laat P, Janssen MC, Alston CL, Taylor RW, Rodenburg RJ, Smeitink JA.

BBA Clin. 2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016 Dec.

23.

International Paediatric Mitochondrial Disease Scale.

Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM.

J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9. Erratum in: J Inherit Metab Dis. 2017 May;40(3):463.

24.

Mitochondrial disorders in children: toward development of small-molecule treatment strategies.

Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA.

EMBO Mol Med. 2016 Apr 1;8(4):311-27. doi: 10.15252/emmm.201506131. Review.

25.

Assisted 6-minute cycling test: An exploratory study in children.

Dirks I, Koene S, Verbruggen R, Smeitink JA, Jansen M, Groot IJ.

Muscle Nerve. 2016 Aug;54(2):232-8. doi: 10.1002/mus.25021. Epub 2016 Jun 13.

PMID:
26718768
26.

Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome.

de Laat P, Fleuren LH, Bekker MN, Smeitink JA, Janssen MC.

Mitochondrion. 2015 Nov;25:98-103. doi: 10.1016/j.mito.2015.10.005. Epub 2015 Oct 9.

PMID:
26455484
27.

Mitochondrial ADP/ATP exchange inhibition: a novel off-target mechanism underlying ibipinabant-induced myotoxicity.

Schirris TJ, Ritschel T, Herma Renkema G, Willems PH, Smeitink JA, Russel FG.

Sci Rep. 2015 Sep 29;5:14533. doi: 10.1038/srep14533.

28.

Statin Lactonization by Uridine 5'-Diphospho-glucuronosyltransferases (UGTs).

Schirris TJ, Ritschel T, Bilos A, Smeitink JA, Russel FG.

Mol Pharm. 2015 Nov 2;12(11):4048-55. doi: 10.1021/acs.molpharmaceut.5b00474. Epub 2015 Oct 6.

PMID:
26412035
29.

Gait analysis in a mouse model resembling Leigh disease.

de Haas R, Russel FG, Smeitink JA.

Behav Brain Res. 2016 Jan 1;296:191-198. doi: 10.1016/j.bbr.2015.09.006. Epub 2015 Sep 9.

PMID:
26363424
30.

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

Schirris TJ, Renkema GH, Ritschel T, Voermans NC, Bilos A, van Engelen BG, Brandt U, Koopman WJ, Beyrath JD, Rodenburg RJ, Willems PH, Smeitink JA, Russel FG.

Cell Metab. 2015 Sep 1;22(3):399-407. doi: 10.1016/j.cmet.2015.08.002.

31.

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.

32.

Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243A>G mutation.

de Laat P, Zweers HE, Knuijt S, Smeitink JA, Wanten GJ, Janssen MC.

Neth J Med. 2015 Jan;73(1):30-6.

33.

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

Koene S, de Laat P, van Tienoven DH, Weijers G, Vriens D, Sweep FC, Timmermans J, Kapusta L, Janssen MC, Smeitink JA.

JIMD Rep. 2015;24:69-81. doi: 10.1007/8904_2015_436. Epub 2015 May 13.

34.

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Hinttala R, Sasarman F, Nishimura T, Antonicka H, Brunel-Guitton C, Schwartzentruber J, Fahiminiya S, Majewski J, Faubert D, Ostergaard E, Smeitink JA, Shoubridge EA.

Hum Mol Genet. 2015 Jul 15;24(14):4103-13. doi: 10.1093/hmg/ddv149. Epub 2015 Apr 24.

35.

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ.

J Inherit Metab Dis. 2015 May;38(3):437-43. doi: 10.1007/s10545-015-9823-y. Epub 2015 Mar 4.

36.

Skeletal muscle mitochondria of NDUFS4-/- mice display normal maximal pyruvate oxidation and ATP production.

Alam MT, Manjeri GR, Rodenburg RJ, Smeitink JA, Notebaart RA, Huynen M, Willems PH, Koopman WJ.

Biochim Biophys Acta. 2015 Jun-Jul;1847(6-7):526-33. doi: 10.1016/j.bbabio.2015.02.006. Epub 2015 Feb 14.

37.

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

Danhauser K, Smeitink JA, Freisinger P, Sperl W, Sabir H, Hadzik B, Mayatepek E, Morava E, Distelmaier F.

J Inherit Metab Dis. 2015 May;38(3):467-75. doi: 10.1007/s10545-014-9796-2. Epub 2015 Feb 17. Review.

PMID:
25687154
38.

Toward high-content screening of mitochondrial morphology and membrane potential in living cells.

Iannetti EF, Willems PH, Pellegrini M, Beyrath J, Smeitink JA, Blanchet L, Koopman WJ.

Int J Biochem Cell Biol. 2015 Jun;63:66-70. doi: 10.1016/j.biocel.2015.01.020. Epub 2015 Feb 8. Review.

PMID:
25668473
39.

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA.

Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2.

PMID:
25642805
40.

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

Blanchet L, Smeitink JA, van Emst-de Vries SE, Vogels C, Pellegrini M, Jonckheere AI, Rodenburg RJ, Buydens LM, Beyrath J, Willems PH, Koopman WJ.

Sci Rep. 2015 Jan 26;5:8035. doi: 10.1038/srep08035.

41.

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

Distelmaier F, Valsecchi F, Liemburg-Apers DC, Lebiedzinska M, Rodenburg RJ, Heil S, Keijer J, Fransen J, Imamura H, Danhauser K, Seibt A, Viollet B, Gellerich FN, Smeitink JA, Wieckowski MR, Willems PH, Koopman WJ.

Biochim Biophys Acta. 2015 Mar;1852(3):529-40. doi: 10.1016/j.bbadis.2014.12.012. Epub 2014 Dec 20.

42.

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA.

J Inherit Metab Dis. 2015 May;38(3):391-403. doi: 10.1007/s10545-014-9787-3. Epub 2014 Dec 20. Review.

PMID:
25526709
43.

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.

McCann BJ, Tuppen HA, Küsters B, Lammens M, Smeitink JA, Taylor RW, Rodenburg RJ, Wortmann SB.

Neuromuscul Disord. 2015 Mar;25(3):262-7. doi: 10.1016/j.nmd.2014.11.002. Epub 2014 Nov 13.

PMID:
25497401
44.

Photo-induction and automated quantification of reversible mitochondrial permeability transition pore opening in primary mouse myotubes.

Blanchet L, Grefte S, Smeitink JA, Willems PH, Koopman WJ.

PLoS One. 2014 Nov 25;9(11):e114090. doi: 10.1371/journal.pone.0114090. eCollection 2014.

45.

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
46.

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

Franik S, Huidekoper HH, Visser G, de Vries M, de Boer L, Hermans-Peters M, Rodenburg R, Verhaak C, Vlieger AM, Smeitink JA, Janssen MC, Wortmann SB.

J Inherit Metab Dis. 2015 May;38(3):477-82. doi: 10.1007/s10545-014-9773-9. Epub 2014 Oct 11.

PMID:
25303853
47.

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

Brands MM, Güngör D, van den Hout JM, Karstens FP, Oussoren E, Plug I, Boelens JJ, van Hasselt PM, Hollak CE, Mulder MF, Rubio Gozalbo E, Smeitink JA, Smit GP, Wijburg FA, Meutgeert H, van der Ploeg AT.

J Inherit Metab Dis. 2015 Mar;38(2):323-31. doi: 10.1007/s10545-014-9737-0. Epub 2014 Jul 22.

PMID:
25048386
48.

Serum FGF21 levels in adult m.3243A>G carriers: clinical implications.

Koene S, de Laat P, van Tienoven DH, Vriens D, Brandt AM, Sweep FC, Rodenburg RJ, Donders AR, Janssen MC, Smeitink JA.

Neurology. 2014 Jul 8;83(2):125-33. doi: 10.1212/WNL.0000000000000578. Epub 2014 Jun 6.

PMID:
24907231
49.

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Renkema GH, Wortmann SB, Smeets RJ, Venselaar H, Antoine M, Visser G, Ben-Omran T, van den Heuvel LP, Timmers HJ, Smeitink JA, Rodenburg RJ.

Eur J Hum Genet. 2015 Feb;23(2):202-9. doi: 10.1038/ejhg.2014.80. Epub 2014 Apr 30.

50.

Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V.

Forkink M, Manjeri GR, Liemburg-Apers DC, Nibbeling E, Blanchard M, Wojtala A, Smeitink JA, Wieckowski MR, Willems PH, Koopman WJ.

Biochim Biophys Acta. 2014 Aug;1837(8):1247-56. doi: 10.1016/j.bbabio.2014.04.008. Epub 2014 Apr 24.

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