RCMM Publications in 2016

  • Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy. Gerber S, Ding MG, Gérard X, Zwicker K, Zanlonghi X, Rio M, Serre V, Hanein S, Munnich A, Rotig A, Bianchi L, Amati-Bonneau P, Elpeleg O, Kaplan J, Brandt U, Rozet JM. J Med Genet. 2016 Dec 28. pii: jmedgenet-2016-104212. doi: 10.1136/jmedgenet-2016-104212. [Epub ahead of print] PubMed PMID: 28031252.

  • Effects of a human recombinant alkaline phosphatase during impaired mitochondrial function in human renal proximal tubule epithelial cells. Peters E, Schirris T, van Asbeck AH, Gerretsen J, Eymael J, Ashikov A, Adjobo-Hermans MJ, Russel F, Pickkers P, Masereeuw R. Eur J Pharmacol. 2016 Dec 22;796:149-157. doi: 10.1016/j.ejphar.2016.12.034. [Epub ahead of print] PubMed PMID: 28012971.

  • Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytes. Lachmandas E, Boutens L, Ratter JM, Hijmans A, Hooiveld GJ, Joosten LA, Rodenburg RJ, Fransen JA, Houtkooper RH, van Crevel R, Netea MG, Stienstra R. Nat Microbiol. 2016 Dec 19;2:16246. doi: 10.1038/nmicrobiol.2016.246. PubMed PMID: 27991883.

  • Identification and evolutionary analysis of tissue-specific isoforms of mitochondrial complex I subunit NDUFV3. Guerrero-Castillo S, Cabrera-Orefice A, Huynen MA, Arnold S. Biochim Biophys Acta. 2016 Dec 15;1858(3):208-217. doi: 10.1016/j.bbabio.2016.12.004. [Epub ahead of print] PubMed PMID: 27988283.

  • 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. 2016 Dec 11. pii: S1096-7192(16)30365-1. doi: 10.1016/j.ymgme.2016.12.005. [Epub ahead of print] PubMed PMID: 27986404. 

  • A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency. Al Mutairi F, Shamseldin HE, Alfadhel M, Rodenburg RJ, Alkuraya FS. Clin Genet. 2016 Oct 13. doi: 10.1111/cge.12891. [Epub ahead of print] PubMed PMID: 27905109. 

  • Radboud Centre for Mitochondrial Medicine Pediatric MRI score. Wong SS, Goraj B, Fung CW, Vister J, de Boer L, Koene S, Smeitink J. Mitochondrion. 2016 Nov 16. pii: S1567-7249(16)30248-3. doi: 10.1016/j.mito.2016.11.008. [Epub ahead of print] PubMed PMID: 27865797. 

  • Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM. EMBO Mol Med. 2016 Nov 17. pii: e201606356. doi: 10.15252/emmm.201606356. [Epub ahead of print] PubMed PMID: 27856618. 

  • MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR. Genome Med. 2016 Nov 1;8(1):106. PubMed PMID: 27799064. 

  • Acute stimulation of glucose influx by mitoenergetic dysfunction requires LKB1, AMPK, Sirt2 and mTOR/RAPTOR. Liemburg-Apers DC, Wagenaars JA, Smeitink JA, Willems PH, Koopman WJ. J Cell Sci. 2016 Oct 28. pii: jcs.194480. [Epub ahead of print] PubMed PMID: 27793977. 

  • FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders. Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, Isoniemi H, Höckerstedt K, Österlund P, Hurme M, Jylhävä J, Leppä S, Markkula R, Heliö T, Mombelli G, Uusimaa J, Laaksonen R, Laaksovirta H, Auranen M, Zeviani M, Smeitink J, Wiesner RJ, Nakada K, Isohanni P, Suomalainen A. Neurology. 2016 Oct 28. pii: 10.1212/WNL.0000000000003374. [Epub ahead of print] PubMed PMID: 27794108. 

  • Cryo-EM structure of respiratory complex I reveals a link to mitochondrial sulfur metabolism. D'Imprima E, Mills DJ, Parey K, Brandt U, Kühlbrandt W, Zickermann V, Vonck J. Biochim Biophys Acta. 2016 Dec;1857(12):1935-1942. doi: 10.1016/j.bbabio.2016.09.014. PubMed PMID: 27693469.

  • Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Pfundt R, Del Rosario M, Vissers LE, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann AP, Stevens SJ, Rodenburg RJ, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA, Hehir-Kwa JY. Genet Med. 2016 Oct 27. doi: 10.1038/gim.2016.163. [Epub ahead of print] PubMed PMID: 27787500. 

  • The membrane scaffold SLP2 anchors a proteolytic hub in mitochondria containing PARL and the i-AAA protease YME1L. Wai T, Saita S, Nolte H, Müller S, König T, Richter-Dennerlein R, Sprenger HG, Madrenas J, Mühlmeister M, Brandt U, Krüger M, Langer T. EMBO Rep. 2016 Oct 13. pii: e201642698. PubMed PMID: 27737933. 

  • The Assembly Pathway of Mitochondrial Respiratory Chain Complex I. Guerrero-Castillo S, Baertling F, Kownatzki D, Wessels HJ, Arnold S, Brandt U, Nijtmans L. Cell Metab. 2016 Sep 30. pii: S1550-4131(16)30480-6. doi: 10.1016/j.cmet.2016.09.002. PubMed PMID: 27720676. 

  • CryoEM structure of respiratory complex I reveals a link to mitochondrial sulfur metabolism. D'Imprima E, Mills DJ, Parey K, Brandt U, Kühlbrandt W, Zickermann V, Vonck J. Biochim Biophys Acta. 2016 Sep 30. pii: S0005-2728(16)30629-6. doi: 10.1016/j.bbabio.2016.09.014. PubMed PMID: 27693469. 

  • RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? van Dijk T, van Ruissen F, Jaeger B, Rodenburg RJ, Tamminga S, van Maarle M, Baas F, Wolf NI, Poll-The BT. JIMD Rep. 2016 Sep 29. [Epub ahead of print] PubMed PMID: 27683254. 

  • Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW. Am J Hum Genet. 2016 Sep 21. pii: S0002-9297(16)30339-1. doi: 10.1016/j.ajhg.2016.08.014. PubMed PMID: 27693233. 

  • Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations. Barrow JJ, Balsa E, Verdeguer F, Tavares CD, Soustek MS, Hollingsworth LR 4th, Jedrychowski M, Vogel R, Paulo JA, Smeitink J, Gygi SP, Doench J, Root DE, Puigserver P. Mol Cell. 2016 Sep 15. pii: S1097-2765(16)30465-8. doi: 10.1016/j.molcel.2016.08.023. [Epub ahead of print] PubMed PMID: 27666594. 

  • The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. König T, Tröder SE, Bakka K, Korwitz A, Richter-Dennerlein R, Lampe PA, Patron M, Mühlmeister M, Guerrero-Castillo S, Brandt U, Decker T, Lauria I, Paggio A, Rizzuto R, Rugarli EI, De Stefani D, Langer T. Mol Cell. 2016 Sep 14. pii: S1097-2765(16)30462-2. doi: 10.1016/j.molcel.2016.08.020. [Epub ahead of print] PubMed PMID: 27642048. 

  • Enteric neurons from Parkinson's disease patients display ex vivo aberrations in mitochondrial structure. Baumuratov AS, Antony PM, Ostaszewski M, He F, Salamanca L, Antunes L, Weber J, Longhino L, Derkinderen P, Koopman WJ, Diederich NJ. Sci Rep. 2016 Sep 14;6:33117. doi: 10.1038/srep33117. PubMed PMID: 27624977. 

  • Proteomics of Human Dendritic Cell Subsets Reveals Subset-Specific Surface Markers and Differential Inflammasome Function. Worah K, Mathan TS, Vu Manh TP, Keerthikumar S, Schreibelt G, Tel J, Duiveman-de Boer T, Sköld AE, van Spriel AB, de Vries IJ, Huynen MA, Wessels HJ, Gloerich J, Dalod M, Lasonder E, Figdor CG, Buschow SI. Cell Rep. 2016 Sep 13;16(11):2953-2966. doi: 10.1016/j.celrep.2016.08.023. PubMed PMID: 27626665. 

  • Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H, Mackay R, Alston CL, O'Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, Chan W, Florkowski CM, Sage M, Höfken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA. Am J Hum Genet. 2016 Aug 10. pii: S0002-9297(16)30231-2. doi: 10.1016/j.ajhg.2016.06.027. [Epub ahead of print] PubMed PMID: 27523597.

  • Multiplexed high-content analysis of mitochondrial morphofunction using live-cell microscopy. Iannetti, E.F., Smeitink, J.A.M., Beyrath, J., Willems, P.H.G.M., Koopman, W.J.H. Nat Protoc. 2016 Sep;11(9):1693-710. doi: 10.1038/nprot.2016.094. 

  • Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Graef R, van den Heuvel L, Ropers HH, Wienker TF, Hübner C, Langer T, Kaindl AM. Elife. 2016 Aug 6;5. pii: e16078. doi:10.7554/eLife.16078. [Epub ahead of print] PubMed PMID: 27495975. 

  • Membrane-bound electron transport systems of an anammox bacterium: A complexome analysis. de Almeida NM, Wessels HJ, de Graaf RM, Ferousi C, Jetten MS, Keltjens JT, Kartal B. Biochim Biophys Acta. 2016 Jul 25;1857(10):1694-1704. doi: 10.1016/j.bbabio.2016.07.006. [Epub ahead of print] PubMed PMID: 27461995. 

  • Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karneebek CD, Thorburn DR, Rodenburg RJ, Christodoulou J. JIMD Rep. 2016 Jul 22. [Epub ahead of print] PubMed PMID: 27450367. 

  • The Eukaryotic-Specific ISD11 Is a Complex-Orphan Protein with Ability to Bind the Prokaryotic IscS. Yan R, Friemel M, Aloisi C, Huynen M, Taylor IA, Leimkühler S, Pastore A. PLoS One. 2016 Jul 18;11(7):e0157895. doi: 10.1371/journal.pone.0157895. eCollection 2016. PubMed PMID: 27427956; PubMed Central PMCID: PMC4948766. 

  • Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure. Wüst RC, de Vries HJ, Wintjes LT, Rodenburg RJ, Niessen HW, Stienen GJ. Cardiovasc Res. 2016 Jul 11. pii: cvw176. [Epub ahead of print] PubMed PMID: 27402402. 

  • 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. PubMed PMID: 27374773. 

  • 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. PubMed PMID: 27331024. 

  • International Paediatric Mitochondrial Disease Scale. Koene S, Hendriks JC, Dirks I, de Boer L, de Vries MC, Janssen MC, Smuts I, Fung CW, Wong VC, de Coo IR, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJ, Smeitink JA. J Inherit Metab Dis. 2016 Jun 9. [Epub ahead of print] PubMed PMID: 27277220. 

  • ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D,Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ. Nat Commun. 2016 May 27;7:11600.doi: 10.1038/ncomms11600. PubMed PMID: 27231034. 

  • Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity. Sente T, Van Berendoncks AM, Jonckheere AI, Rodenburg RJ, Lauwers P, Van Hoof V, Wouters A, Lardon F, Hoymans VY, Vrints CJ. BMC Cardiovasc Disord. 2016 May 26;16:107. doi: 10.1186/s12872-016-0278-3. PubMed PMID: 27228977; PubMed Central PMCID: PMC4880810. 

  • A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D. Eur J Med Genet. 2016 May 13;59(6-7):342-346. doi: 10.1016/j.ejmg.2016.05.005. [Epub ahead of print] PubMed PMID: 27182039. 

  • Integrated High-Content Quantification of Intracellular ROS Levels and Mitochondrial Morphofunction. Sieprath T, Corne TD, Willems PH, Koopman WJ, De Vos WH.  Adv Anat Embryol Cell Biol. 2016;219:149-177. PubMed PMID: 27207366. 

  • Bacterial Electron Transfer Chains Primed by Proteomics. Wessels HJ, de Almeida NM, Kartal B, Keltjens JT. Adv Microb Physiol. 2016;68:219-352. doi: 10.1016/bs.ampbs.2016.02.006. Epub 2016 Apr 1. PubMed PMID: 27134025. 

  • The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution. Elurbe DM, Huynen MA. Biochim Biophys Acta. 2016 Apr 15. pii: S0005-2728(16)30074-3. 

  • Unraveling the complexity of mitochondrial complex I assembly; a dynamic process. Sánchez-Caballero L, Guerrero-Castillo S, Nijtmans LBiochim Biophys Acta. 2016 Mar 31. pii: S0005-2728(16)30078-0. doi: 10.1016/j.bbabio.2016.03.031. [Epub ahead of print] PubMed PMID: 27040506. 

  • Broad defects in the energy metabolism of leukocytes underlie immunoparalysis in sepsis. Cheng SC, Scicluna BP, Arts RJ, Gresnigt MS, Lachmandas E, Giamarellos-Bourboulis EJ, Kox M, Manjeri GR, Wagenaars JA, Cremer OL, Leentjens J, van der Meer AJ, van de Veerdonk FL, Bonten MJ, Schultz MJ, Willems PH, Pickkers P, Joosten LA, van der Poll T, Netea MG. Nat Immunol. 2016 Apr;17(4):406-13. doi: 10.1038/ni.3398. Epub 2016 Mar 7. PubMed PMID: 26950237. 

  • Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation. Verhaak C, de Laat P, Koene S, Tibosch M, Rodenburg R, de Groot I, Knoop H, Janssen M, Smeitink J. Orphanet J Rare Dis. 2016 Mar 18;11(1):25. doi: 10.1186/s13023-016-0403-5. PubMed PMID: 26988355; PubMed Central PMCID: PMC4797235. 

  • Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. Santra S, Cameron JM, Shyr C, Zhang L, Drögemöller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD. Mol Genet Metab. 2016 Mar 4. pii: S1096-7192(16)30021-X. doi: 10.1016/j.ymgme.2016.03.001. [Epub ahead of print] PubMed PMID: 26971250. 

  • 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 Mar 7. pii: e201506131. doi: 10.15252/emmm.201506131. [Epub ahead of print] Review. PubMed PMID: 26951622. 

  • Structure and function of mitochondrial complex I. Wirth C, Brandt U, Hunte C, Zickermann V. Biochim Biophys Acta. 2016 Feb 24. pii: S0005-2728(16)30032-9. doi: 10.1016/j.bbabio.2016.02.013. [Epub ahead of print] PubMed PMID: 26921811. 

  • Mitochondrial complex I-linked disease. Rodenburg RJ. Biochim Biophys Acta. 2016 Feb 22. pii: S0005-2728(16)30031-7. doi: 10.1016/j.bbabio.2016.02.012. [Epub ahead of print] PubMed PMID: 26906428. 

  • CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. Am J Hum Genet. 2016 Jan 27. pii: S0002-9297(15)00505-4. doi: 10.1016/j.ajhg.2015.12.010. [Epub ahead of print] PubMed PMID: 26833332. 

  • TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. Am J Hum Genet. 2016 Jan 27. pii: S0002-9297(15)00506-6. doi:10.1016/j.ajhg.2015.12.011. [Epub ahead of print] PubMed PMID: 26833330. 

  • TCA Cycle and Mitochondrial Membrane Potential Are Necessary for Diverse Biological Functions. Martínez-Reyes I, Diebold LP, Kong H, Schieber M, Huang H, Hensley CT, Mehta MM, Wang T, Santos JH, Woychik R, Dufour E, Spelbrink JN, Weinberg SE, Zhao Y, DeBerardinis RJ, Chandel NS. Mol Cell. 2016 Jan 21;61(2):199-209. 

  • Hodgkin and Reed-Sternberg cells of classical Hodgkin lymphoma are highly dependent on oxidative phosphorylation. Birkenmeier K, Dröse S, Wittig I, Winkelmann R, Käfer V, Döring C, Hartmann S, Wenz T, Reichert AS, Brandt U, Hansmann ML. Int J Cancer. 2016 May 1;138(9):2231-46. doi: 10.1002/ijc.29934. Epub 2016 Jan 18. 

  • Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? Thiels C, Fleger M, Huemer M, Rodenburg RJ, Vaz FM, Houtkooper RH, Haack TB, Prokisch H, Feichtinger RG, Lücke T, Mayr JA, Wortmann SB. JIMD Rep. 2016 Jan 3. [Epub ahead of print] PubMed PMID: 26724946.