Marris G. Dibley
Discovery Institute
Publications 5
2 CitationsSource
#1Charlotte L. Alston (Newcastle University)H-Index: 24
#2Juliana Heidler (Goethe University Frankfurt)H-Index: 11
Last.Robert W. Taylor (Newcastle University)H-Index: 92
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Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding the complex I structural subunits or assembly factors. Such genetic heterogeneity means that application of next-generation sequencing technologies to undiagnosed cohorts has been a catalyst for genetic diagnosis and gene-disease associations. We describe the clinical and molecular genetic inve...
4 CitationsSource
#1Luke E. Formosa (DI: Discovery Institute)H-Index: 7
#2Marris G. Dibley (DI: Discovery Institute)H-Index: 4
Last.Michael T. Ryan (DI: Discovery Institute)H-Index: 60
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Abstract Mitochondrial complex I is the primary entry point for electrons into the electron transport chain, required for the bulk of cellular ATP production via oxidative phosphorylation. Complex I consists of 45 subunits, which are encoded by both nuclear and mitochondrial DNA. Currently, at least 15 assembly factors are known to be required for the complete maturation of complex I. Mutations in the genes encoding subunits and assembly factors lead to complex I deficiency, which can manifest a...
19 CitationsSource
#1Marris G. Dibley (Monash University)H-Index: 4
#2Michael T. Ryan (Monash University)H-Index: 60
Last.David A. Stroud (Monash University)H-Index: 24
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Human mitochondrial complex I is the first enzyme of the mitochondrial respiratory chain. Complex I is composed of 45 subunits, seven encoded by mitochondrial DNA, while the remainder are encoded by nuclear DNA. All nuclear-encoded subunits are thought to be expressed as a single isoform. Here we reveal subunit NDUFV3 to be present in both the canonical 10 kDa and a novel 50 kDa isoform, generated through alternative splicing. Both isoforms assemble into complex I and their levels vary in differ...
7 CitationsSource
#1David A. Stroud (DI: Discovery Institute)H-Index: 24
#2Elliot E. Surgenor (DI: Discovery Institute)H-Index: 2
Last.Michael T. Ryan (DI: Discovery Institute)H-Index: 60
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Gene-editing technology and large-scale proteomics are used to provide insights into the modular assembly of the human mitochondrial respiratory chain complex I, as well as identifying new assembly factors.
98 CitationsSource