Nevena MacKay

Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

Jessie M. Cameron, Alexandre Janer, Valeriy Levandovskiy et al. · The American Journal of Human Genetics · 2011 · 274 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

Jessie M. Cameron, Valeriy Levandovskiy, Nevena MacKay et al. · Molecular Genetics and Metabolism · 2009 · 81 citations

Medicine, Genetics, Molecular Genetics +15

Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome <i>b</i> expression and a marked reduction in ubiquinol–cytochrome <i>c</i> reductase activity in mouse heart mitochondria

Fenghao Xu, Cameron Ackerley, Mary C. Maj et al. · Biochemical Journal · 2008 · 79 citations

Life Sciences, Genetics, Molecular Biology +15

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

Jessie M. Cameron, Valeriy Levandovskiy, Nevena MacKay et al. · Mitochondrion · 2010 · 45 citations

Life Sciences, Cell Biology, Molecular Biology +9

Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations

Komudi Siriwardena, Nevena MacKay, Valeriy Levandovskiy et al. · Molecular Genetics and Metabolism · 2012 · 41 citations

Life Sciences, Biochemistry, Genetics +13