Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

The effect of small molecules on nuclear-encoded translation diseases

(2013) Devorah Soiferman et al.   BIOCHIMIE

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

(2013) Veronika Boczonadi et al.   HUMAN MOLECULAR GENETICS

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

(2012) Alessia Indrieri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

(2012) Alberto Casarin et al.   Orphanet Journal of Rare Diseases

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

(2012) Andreas Ohlenbusch et al.   Orphanet Journal of Rare Diseases

Mitochondrial Cardioencephalomyopathy Due to a Novel SCO2 Mutation in a Brazilian Patient

(2012) Juliana Gurgel-Giannetti et al.   JAMA Neurology

Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core

(2011) Ileana C. Soto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Screening for Active Small Molecules in Mitochondrial Complex I Deficient Patient's Fibroblasts, Reveals AICAR as the Most Beneficial Compound

(2011) Anna Golubitzky et al.   PLoS One

Role of conformational sampling in computing mutation-induced changes in protein structure and stability

(2010) Elizabeth H. Kellogg et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

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

Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

(2009) Eyal Shteyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

Multisystem manifestations of mitochondrial disorders

(2009) Stefano Di Donato   JOURNAL OF NEUROLOGY

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

(2008) Valeria Massa et al.   AMERICAN JOURNAL OF HUMAN GENETICS