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Elife|March 7, 2023
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiencyBryn D Webb, Sara M Nowinski, Ashley Solmonson, et al.
International Journal of Molecular Sciences|December 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers SyndromeSofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque, et al.
Plos One|August 13, 2013
Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profilingHans J C T Wessels, Rutger O Vogel, Robert N Lightowlers, et al.
Biochimica Et Biophysica Acta. Bioenergetics|January 7, 2021
Soluble adenylyl cyclase regulates the cytosolic NADH/NAD+ redox state and the bioenergetic switch between glycolysis and oxidative phosphorylationJung-Chin Chang, Simei Go, Eduardo H Gilglioni, et al.
Neurology|July 23, 2017
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDGDavid C Schorling, Simone Rost, Dirk J Lefeber, et al.
Molecular Genetics and Metabolism|February 21, 2017
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunctionPäivi Vieira, Jessie Cameron, Elisa Rahikkala, et al.
Endocrine-Related Cancer|November 6, 2020
Loss of sdhb in zebrafish larvae recapitulates human paraganglioma characteristicsMargo Dona, Selma Waaijers, Susan Richter, et al.
Annals of Neurology|April 30, 2014
Mutations in RARS cause hypomyelinationNicole I Wolf, Gajja S Salomons, Richard J Rodenburg, et al.
The Journal of Pathology|July 11, 2009
Enhanced number and activity of mitochondria in multiple sclerosis lesionsMaarten E Witte, Lars Bø, Richard J Rodenburg, et al.
European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
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