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COST Action CA15203 (2016-2021): MitoEAGLE
Evolution-Age-Gender-Lifestyle-Environment: mitochondrial fitness mapping
Van Hove Johan
MitoPedia topics: EAGLE
| Name | Van Hove Johan, Prof., MD, PhD |
|---|---|
| Institution | Department Pedriatics - Section of Clinical Genetics and Metabolism,
School of Medicine, Anschutz Medical Campus, University of Colorado, US |
| Address | Mail Stop 8313
RC1-North 12800 E. 19th Avenue, Room 4132 Aurora, 80045 |
| City | Denver |
| State/Province | Colorado (CO) |
| Country | USA |
| [email protected] | |
| Weblink | |
| O2k-Network Lab | US CO Denver Van Hove J |
Labels:
Field of research: Clinical
Topics: Diagnosis of inherited mitochondrial diseases - identification of new genetic mitochondrial diseases
Publications
| Published | Reference | |
|---|---|---|
| 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. |
| 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, 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 (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. |
Abstracts
