Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

(2010) Hana Antonicka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

(2009) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

(2009) Paulien Smits et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and molecular features of mitochondrial DNA depletion syndromes

(2009) A. Spinazzola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

(2009) P. Isohanni et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Woranontee Weraarpachai et al.   NATURE GENETICS

Resistance training in patients with single, large-scale deletions of mitochondrial DNA

(2008) J. L. Murphy et al.   BRAIN

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

The human mitochondrial ribosome recycling factor is essential for cell viability

(2008) Joanna Rorbach et al.   NUCLEIC ACIDS RESEARCH