Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Lefkothea C. Papadopoulou, Carolyn M. Sue, Mercy M. Davidson, +18

Nature Genetics

CardiomyopathyHeart FailureGenetic DisorderGeneticsPathology +8

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ ₁₀ deficiency

Catarina M. Quinzii, Luís C. López, Jakob Von‐Moltke, +7

The FASEB Journal

Inflammatory Lung DiseaseLung InflammationMolecular BiologyRedox BiologyOxidative Stress +20

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA ^Ser(UCN) gene

Carolyn M. Sue, Kurenai Tanji, George Hadjigeorgiou, +10

Neurology

Subcellular distribution of daunorubicin in P-glycoprotein-positive and -negative drug-resistant cell lines using laser-assisted confocal microscopy.

James E. Gervasoni, Scott Z. Fields, Sindu Krishna, +5

PubMed

Cellular PharmacologyPharmacotherapyCell BiophysicsCellular PhysiologySubcellular Distribution +14

Intracellular distribution and pharmacokinetics of daunorubicin in anthracycline-sensitive and -resistant HL-60 cells.

Alexander Hindenburg, James E. Gervasoni, Sindu Krishna, +6

PubMed

-Resistant Hl-60 CellsCellular PharmacologyPharmacotherapyAntimicrobial ChemotherapyCellular Physiology +19

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

Sara Shanske, Jorida Çoku, Jiesheng Lu, +7

PubMed

A nonsense mutation (G15059A) in the cytochromeb gene in a patient with exercise intolerance and myoglobinuria

Antoni L. Andreu, Claudio Bruno, Tony Dunne, +8

Annals of Neurology

Role of glutathione and dependent enzymes in anthracycline-resistant HL60/AR cells.

Jose Lutzky, Myles Astor, R. N. Taub, +7

PubMed

Nuclear FluorescenceLipid PeroxidationRedox BiologyOxidative StressDrug Resistance +16

Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome

Sara Shanske, Yingying Tang, Michio Hirano, +9

The American Journal of Human Genetics

Mitochondrial MyopathyGenetic TestingMendelian DisorderMitochondrial FunctionOphthalmology +9

Missense mutation in the mtDNA cytochrome <i>b</i> gene in a patient with myopathy

Antoni L. Andreu, Claudio Bruno, Sara Shanske, +7

Neurology

GeneticsMolecular BiologyPathologyMolecular GeneticsDisease Gene Identification +17