Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome

(2019) Mei Lu et al.   JOURNAL OF HUMAN GENETICS

An Isoprene Lipid-Binding Protein Promotes Eukaryotic Coenzyme Q Biosynthesis

(2019) Danielle C. Lohman et al.   MOLECULAR CELL

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration

(2019) Ahmet Okay Caglayan et al.   CEREBELLUM

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

(2019) Mullin Ho-Chung Yu et al.   npj Genomic Medicine

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

(2019) Janina Gburek-Augustat et al.   NEUROPEDIATRICS

Clinical syndromes associated with Coenzyme Q 10 deficiency

(2018) María Alcázar-Fabra et al.   Essays in Biochemistry

Bypassing human CoQ 10 deficiency

(2018) Diran Herebian et al.   MOLECULAR GENETICS AND METABOLISM

Detection of 6-demethoxyubiquinone in CoQ 10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics

(2017) Diran Herebian et al.   MOLECULAR GENETICS AND METABOLISM

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era

(2017) Johannes Mayr et al.   NEUROPEDIATRICS

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency

(2017) Diran Herebian et al.   Annals of Clinical and Translational Neurology

The many faces of paediatric mitochondrial disease on neuroimaging

(2016) Fabian Baertling et al.   CHILDS NERVOUS SYSTEM

Cerebellar ataxia and severe muscle CoQ10deficiency in a patient with a novel mutation inADCK3

(2016) E. Barca et al.   CLINICAL GENETICS

Neonatal encephalocardiomyopathy caused by mutations in VARS2

(2016) Fabian Baertling et al.   METABOLIC BRAIN DISEASE

Brain morphometry in Pontocerebellar Hypoplasia type 2

(2016) Kaspar Ekert et al.   Orphanet Journal of Rare Diseases

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

(2015) Gloria Brea-Calvo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inCOQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

(2015) Wendy K Chung et al.   JOURNAL OF MEDICAL GENETICS

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

(2014) Maria Andrea Desbats et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Coenzyme Q – Biosynthesis and functions

(2010) Magnus Bentinger et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Is coenzyme Q a key factor in aging?

(2010) Guillermo López-Lluch et al.   MECHANISMS OF AGEING AND DEVELOPMENT

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

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

The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis

(2008) Beth Marbois et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS