RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 361 citations · Full text

Structure of the Mammalian Mitochondrial Ribosome Reveals an Expanded Functional Role for Its Component Proteins

Manjuli R. Sharma, Emine C. Koc, Partha P. Datta et al. · Cell · 2003 · 337 citations · Full text

Mitochondrial Biogenesis, Biochemistry, Mitochondrial Function +9

Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Yelena Bykhovskaya, Kari Casas, Emebet Mengesha et al. · The American Journal of Human Genetics · 2004 · 311 citations · Full text

Mitochondrial Myopathy, Mitochondrial Function, Biochemistry +10

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

Woranontee Weraarpachai, Hana Antonická, Florin Sasarman et al. · Nature Genetics · 2009 · 304 citations

Late-onset Leigh Syndrome, Mitochondrial Function, Genetic Disorder +8

The Mitochondrial RNA-Binding Protein GRSF1 Localizes to RNA Granules and Is Required for Posttranscriptional Mitochondrial Gene Expression

Hana Antonická, Florin Sasarman, Tamiko Nishimura et al. · Cell Metabolism · 2013 · 244 citations · Full text

Mitochondrial Biogenesis, Mitochondrial Function, Genetics +6