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Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Van Hove JLK, Freeze HH, Abdenur JE. Simon MT, et al. Among authors: friederich mw. Mitochondrion. 2017 May;34:84-90. doi: 10.1016/j.mito.2017.02.004. Epub 2017 Feb 12. Mitochondrion. 2017. PMID: 28216230 Free PMC article.
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Baker PR 2nd, et al. Among authors: friederich mw. Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11. Brain. 2014. PMID: 24334290 Free PMC article.
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Chatfield KC, et al. Among authors: friederich mw. Mitochondrion. 2015 Mar;21:1-10. doi: 10.1016/j.mito.2014.12.005. Epub 2015 Jan 6. Mitochondrion. 2015. PMID: 25575635 Free PMC article.
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Coughlin CR 2nd, et al. Among authors: friederich mw. J Med Genet. 2015 Aug;52(8):532-40. doi: 10.1136/jmedgenet-2015-103049. Epub 2015 Mar 18. J Med Genet. 2015. PMID: 25787132
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Ferdinandusse S, et al. Among authors: friederich mw. Orphanet J Rare Dis. 2015 Jun 18;10:79. doi: 10.1186/s13023-015-0290-1. Orphanet J Rare Dis. 2015. PMID: 26081110 Free PMC article.
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
Bjoraker KJ, Swanson MA, Coughlin CR 2nd, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL. Bjoraker KJ, et al. Among authors: friederich mw. J Pediatr. 2016 Mar;170:234-9. doi: 10.1016/j.jpeds.2015.12.027. Epub 2016 Jan 1. J Pediatr. 2016. PMID: 26749113 Free article.
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.
Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JLK, Lawlor MW, Dimmock DP. Bennett B, et al. Among authors: friederich mw. Free Radic Biol Med. 2016 Mar;92:141-151. doi: 10.1016/j.freeradbiomed.2016.01.001. Epub 2016 Jan 8. Free Radic Biol Med. 2016. PMID: 26773591 Free PMC article.
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.
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. Friederich MW, et al. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.
45 results