Journal article
Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation
J Johnson, W Lee, AE Frazier, V Vaghjiani, A Laskowski, AL Rodriguez, GL Cagnone, M McKenzie, SJ White, DR Nisbet, DR Thorburn, JC St. John
Stem Cells and Development | MARY ANN LIEBERT, INC | Published : 2016
Abstract
The vast majority of cellular ATP is produced by the oxidative phosphorylation (OXPHOS) system, which comprises the four complexes of the electron transfer chain plus the ATP synthase. Complex I is the largest of the OXPHOS complexes, and mutation of the genes encoding either the subunits or assembly factors of Complex I can result in Complex I deficiency, which is the most common OXPHOS disorder. Mutations in the Complex I gene NDUFS4 lead to Leigh syndrome, which is the most frequent presentation of Complex I deficiency in children presenting with progressive encephalopathy shortly after birth. Symptoms include motor and intellectual retardation, often accompanied by dystonia, ataxia, and ..
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Awarded by Alberta Emerald Foundation
Funding Acknowledgements
We acknowledge Leonie Tutolo from the MCRI for assistance with embryo collection; the facilities and scientific and technical assistance of the Histology Facility, Hudson Institute of Medical Research; and the MHTP Medical Genomics Facility-ACRF Centre for Cancer Genomic Medicine for use of next-generation sequencing and array facilities. This work was supported by the Victorian Government's Operational Infrastructure Support Program; NMHRC Project Grant GNT1022222 to DRT, JCSJ, AEF, SJW, and DRN; an ARC Future Fellowship to MMcK; NHMRC Career Development Fellowships to DRN (GNT1050684) and AEF (GNT541920); and an NHMRC Principal Research Fellowship (GNT 1022896) to DRT.