ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

(2013) H. J. McCarthy et al.   Clinical Journal of the American Society of Nephrology

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

(2013) Heon Yung Gee et al.   JOURNAL OF CLINICAL INVESTIGATION

An In Vivo Functional Analysis System for Renal Gene Discovery in Drosophila Pericardial Nephrocytes

(2013) F. Zhang et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

(2012) Leonardo Salviati et al.   JOURNAL OF MEDICAL GENETICS

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

(2012) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

Inducible Podocyte Injury and Proteinuria in Transgenic Zebrafish

(2012) W. Zhou et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Cubilin and Amnionless Mediate Protein Reabsorption in Drosophila Nephrocytes

(2012) F. Zhang et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

(2011) Fatih Ozaltin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants

(2011) Letian X. Xie et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Primary and secondary CoQ10 deficiencies in humans

(2011) Catarina M. Quinzii et al.   BIOFACTORS

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency inPdss2mutant mice

(2011) Marni J. Falk et al.   EMBO Molecular Medicine

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

(2010) Geneviève Benoit et al.   Annals of the New York Academy of Sciences

Genetic kidney diseases

(2010) Friedhelm Hildebrandt   LANCET

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto 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

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ubiquinone biosynthesis inSaccharomyces cerevisiae: the molecular organization ofO-methylase Coq3p depends on Abc1p/Coq8p

(2008) Anja Tauche et al.   FEMS YEAST RESEARCH

EBV Immortalization of human B lymphocytes separated from small volumes of cryo-preserved whole blood

(2008) M. Amoli et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

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