Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population

Autor: Teresa Campbell, Jesse Slone, Hallie Metzger, Wensheng Liu, Stephanie Sacharow, Amy Yang, Mariya Moosajee, Chiara La Morgia, Valerio Carelli, Flavia Palombo, Matthew A. Lines, A. Micheil Innes, Rebecca J. Levy, Derek Neilson, Nicola Longo, Taosheng Huang

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 100841- (2024)

Purpose: Ferredoxin reductase (FDXR) is a flavoprotein that functions in both iron sulfur cluster biogenesis and steroid biosynthesis pathways in the mitochondria. Not surprisingly, loss of FDXR function causes severe mitochondrial diseases in humans

Externí odkaz: https://doaj.org/article/14b2f1c3bdb94d69a508a66ba9e78cd1

Expression, purification and crystal structure determination of a ferredoxin reductase from the actinobacterium Thermobifida fusca.

Autor: Rodriguez Buitrago, Jhon Alexander¹ (AUTHOR), Klünemann, Thomas² (AUTHOR), Blankenfeldt, Wulf^1,2 (AUTHOR), Schallmey, Anett¹ (AUTHOR) a.schallmey@tu-braunschweig.de

Publikováno v: Acta Crystallographica: Section F, Structural Biology Communications. Aug2020, Vol. 76 Issue 8, p334-340. 7p.

Ferredoxin reductase regulates proliferation, differentiation, cell cycle and lipogenesis but not apoptosis in SZ95 sebocytes

Autor: Li, Meng-Tong, Pi, Xiao-Xue, Cai, Xiao-Lin, Liu, Si, Huang, Zheng, Zouboulis, Christos C., Fan, Yi-Ming, Shi, Ge

Publikováno v: In Experimental Cell Research 15 August 2021 405(2)

Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.

Autor: Campbell T; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY., Slone J; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY., Metzger H; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY., Liu W; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Harvard Medical School, Boston, MA., Yang A; Oregon Health and Science University, Portland, OR., Moosajee M; Institute of Ophthalmology, University College London, London, United Kingdom.; The Francis Crick Institute, London, United Kingdom., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, BO, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, BO, Italy., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, BO, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, BO, Italy., Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, BO, Italy., Lines MA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Levy RJ; Department of Neurology, Stanford University, Stanford, CA., Neilson D; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ., Longo N; Department of Pediatrics, University of Utah, Salt Lake City, UT., Huang T; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY.

Publikováno v: Genetics in medicine open [Genet Med Open] 2023 Nov 11; Vol. 2, pp. 100841. Date of Electronic Publication: 2023 Nov 11 (Print Publication: 2024).

Characterization of a novel CYP51 from Rhodococcus triatomae and its NADH-ferredoxin reductase-coupled application in lanosterol 14α-demethylation

Autor: Ke, Xia, Ding, Guan-Jun, Ma, Bin-Xiang, Liu, Zhi-Qiang, Zhang, Jin-Feng, Zheng, Yu-Guo

Publikováno v: In Process Biochemistry November 2017 62:59-68