Matthew McKenzieSummaryAffiliation: University College London Country: UK Publications
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Mitochondrial disease: mutations and mechanismsMatthew McKenzie
Department of Physiology, University College London, Gower Street, London, United Kingdom WC1E 6BT
Neurochem Res 29:589-600. 2004..Our current understanding of the contribution of these various mechanisms to mitochondrial disease pathophysiology will be discussed...- Functional respiratory chain analyses in murid xenomitochondrial cybrids expose coevolutionary constraints of cytochrome b and nuclear subunits of complex IIIMatthew McKenzie
Genomic Disorders Research Centre, University of Melbourne Department of Medicine, St. Vincent's Hospital, Victoria, Australia
Mol Biol Evol 20:1117-24. 2003..The greater sensitivity of complex III to xenocybrid dysfunction may result from the encoding of redox center apoproteins in both nuclear and mitochondrial genomes, a unique feature of this RC complex... 
Production of homoplasmic xenomitochondrial miceMatthew McKenzie
Genomic Disorders Research Centre, Department of Medicine, St. Vincent's Hospital, University of Melbourne, Melbourne, Victoria 3065, Australia
Proc Natl Acad Sci U S A 101:1685-90. 2004..These xenocybrid models represent the first viable transmitochondrial mice with homoplasmic replacement of endogenous mtDNA and confirm the feasibility of producing mitochondrial defects in mice by using a xenomitochondrial approach...- Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patientsMatthew McKenzie
Department of Biochemistry, La Trobe University, Melbourne, Australia
J Mol Biol 361:462-9. 2006..We propose that the loss of mature cardiolipin species in Barth Syndrome results in unstable respiratory chain supercomplexes, thereby affecting Complex I biogenesis, respiratory activities and subsequent pathology... - Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresisMatthew McKenzie
Department of Biochemistry, La Trobe University, Melbourne, VIC 3086, Australia
Anal Biochem 364:128-37. 2007..Furthermore, we show that this approach is highly suited for the rapid detection of respiratory complex assembly defects in fibroblasts from patients with mitochondrial disease and, thus, has potential diagnostic applications... - Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex IMichael Lazarou
Department of Biochemistry, La Trobe University, Melbourne, Australia
Mol Cell Biol 27:4228-37. 2007..Subunit exchange may also act as an efficient mechanism to prevent the accumulation of oxidatively damaged subunits that would otherwise be detrimental to mitochondrial oxidative phosphorylation and have the potential to cause disease... - Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumptionMatthew McKenzie
Department of Biochemistry, La Trobe University, Melbourne 3086, Australia
J Biol Chem 282:36845-52. 2007..These data suggest that in response to impaired respiration due to the mtDNA mutation, mitochondria consume ATP to maintain Deltapsim, representing a potential pathophysiological mechanism in human mitochondrial disease... - Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseCanny Sugiana
Mitochondrial and Metabolic Research Group, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, VIC 3052, Australia
Am J Hum Genet 83:468-78. 2008..Our results indicate that C20orf7 is crucial in the assembly of complex I and that mutations in C20orf7 cause mitochondrial disease...