From Bioblast
US CO Denver Van Hove J
O2k-Network Lab | University of Colorado - Anschutz Medical Campus
Department Pedriatics - Section of Clinical Genetics and Metabolism School of Medicine |
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Address | Mail Stop 8313
RC1-North 12800 E. 19th Avenue, Room 4132 Aurora, 80045 |
City | Denver |
State/Prov | Colorado (CO) |
Country | USA |
Weblink | |
Contact | Van Hove Johan |
Team | Friederich Marisa |
Team previous | |
Status | 2 Power-O2k 2013- |
Oroboros Events | IOC75, IOC72 |
Topics |
O2k-Publications
Published | Reference | |
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Friederich 2021 Mol Genet Metab | 2021 | Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK (2021) Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab 133:362-71. |
Knight 2020 Mitochondrion | 2020 | Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK (2020) The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Mitochondrion 55:8-13. |
Friederich 2019 Mol Genet Metab | 2019 | Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK (2019) Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab 129:236-42. |
Collard 2018 Mol Cell Biol | 2018 | Collard R, Majtan T, Park I, Kraus JP (2018) Import of TAT-conjugated propionyl coenzyme A carboxylase using models of propionic acidemia. Mol Cell Biol 38. pii: e00491-17. |
Friederich 2018 Nat Commun | 2018 | 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, GonzΓ‘lez 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, FernΓ‘ndez-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK (2018) Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun 9:4065. |
Friederich 2017 Hum Mol Genet | 2017 | Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J (2017) Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet 26:702-16. |
Papazova 2015 Am J Physiol Renal Physiol | 2015 | Papazova DA, Friederich-Persson M, Joles JA, Verhaar MC (2015) Renal transplantation induces mitochondrial uncoupling, increased kidney oxygen consumption, and decreased kidney oxygen tension. Am J Physiol Renal Physiol 308:F22-8. |
Nordquist 2015 J Am Soc Nephrol | 2015 | Nordquist L, Friederich-Persson M, Fasching A, Liss P, Shoji K, Nangaku M, Hansell P, Palm F (2015) Activation of hypoxia-inducible factors prevents diabetic nephropathy. J Am Soc Nephrol 26:328-38. |
Friederich-Persson 2014 Adv Exp Med Biol | 2014 | Friederich-Persson M, Welch WJ, Luo Z, Palm F, Nordquist L (2014) Angiotensin II reduces transport-dependent oxygen consumption but increases transport-independent oxygen consumption in immortalized mouse proximal tubular cells. Adv Exp Med Biol 812:157-63. |
O2k-Abstracts
Published | Reference | |
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Friedrich 2010 Abstract MiP2010 | 2010 | Kidney cortex mitochondria are non-functional in a potassium-based media whereas heart mitochondria improve with increasing potassium concentration. Mitochondr Physiol Network 15.6. |