Publications by authors named "Nevena MacKay"

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Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.
Jessie M Cameron, Nevena MacKay, Annette Feigenbaum, Mark Tarnopolsky, Susan Blaser

Eur J Paediatr Neurol· September 2015

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Complex II deficiency--a case report and review of the literature.
Shailly Jain-Ghai, Jessie M Cameron, Almundher Al Maawali, Susan Blaser, Nevena MacKay

Am J Med Genet A· February 2013

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Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
Komudi Siriwardena, Nevena Mackay, Valeriy Levandovskiy, Susan Blaser, Julian Raiman

Mol Genet Metab· January 2013

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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, Nevena Mackay, Tracey A Rouault

Am J Hum Genet· October 2011

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Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
Jessie M Cameron, Valeriy Levandovskiy, Nevena Mackay, Cameron Ackerley, David Chitayat

Mitochondrion· January 2011

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Oxidative stress alters the regulatory control of p66Shc and Akt in PINK1 deficient cells.
Mary C Maj, Ilona Tkachyova, Pratik Patel, Jane B Addis, Nevena Mackay

Biochem Biophys Res Commun· August 2010

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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, Rucha Utgikar, Cameron Ackerley

Mol Genet Metab· December 2009

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Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria.
Fenghao Xu, Cameron Ackerley, Mary C Maj, Jane B L Addis, Valeriy Levandovskiy, Nevena Mackay

Biochem J· November 2008

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