COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic evidence for the requirement of the endocytic pathway in the uptake of coenzyme Q6 in Saccharomyces cerevisiae

(2009) Sergio Padilla-López et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

(2009) E. Machuca et al.   HUMAN MOLECULAR GENETICS

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

(2009) Elizabeth J Brown et al.   NATURE GENETICS

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

(2008) Alberto Casarin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Water-soluble Coenzyme Q10 formulation (Q-ter) promotes outer hair cell survival in a guinea pig model of noise induced hearing loss (NIHL)

(2008) Anna Rita Fetoni et al.   BRAIN RESEARCH

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency

(2008) Catarina M. Quinzii et al.   FASEB JOURNAL

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mpv17l protects against mitochondrial oxidative stress and apoptosis by activation of Omi/HtrA2 protease

(2008) S. Krick et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease

(2008) Min Peng et al.   PLoS Genetics