New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts

Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome

(2020) Daniele Galatolo et al.   HUMAN MUTATION

Distal motor neuropathy associated with novel EMILIN1 mutation

(2020) Michele Iacomino et al.   NEUROBIOLOGY OF DISEASE

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

(2020) Elena Buglo et al.   PLoS One

Expanding the clinical and genetic heterogeneity of SPAX5

(2020) Claudia Dosi et al.   Annals of Clinical and Translational Neurology

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

A common COQ4 mutation in undiagnosed mitochondrial disease: a local case series

(2019) Tsz-ki Ling et al.   PATHOLOGY

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

(2019) Ahmet Okay Caglayan et al.   CEREBELLUM

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6

(2019) Manuel J. Acosta Lopez et al.   Oxidative Medicine and Cellular Longevity

Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells

(2019) Cristina Cerqua et al.   Scientific Reports

The complex phenotype of spinocerebellar ataxia type 48 (SCA48) in eight unrelated Italian families

(2019) M Lieto et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

Mevalonate Pathway Provides Ubiquinone to Maintain Pyrimidine Synthesis and Survival in p53-Deficient Cancer Cells Exposed to Metabolic Stress

(2019) Irem Kaymak et al.   CANCER RESEARCH

Coenzyme Q10 Regulation of Apoptosis and Oxidative Stress in H2O2 Induced BMSC Death by Modulating the Nrf-2/NQO-1 Signaling Pathway and Its Application in a Model of Spinal Cord Injury

(2019) Xing Li et al.   Oxidative Medicine and Cellular Longevity

Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia

(2019) Valentina Naef et al.   Frontiers in Neuroscience

Idebenone: Novel Strategies to Improve Its Systemic and Local Efficacy

(2018) Lucia Montenegro et al.   Nanomaterials

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

(2017) Luis Vazquez Fonseca et al.   HUMAN MUTATION

Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q 10 deficiency harboring a heterozygous mutation in COQ4 gene

(2017) Damià Romero-Moya et al.   Stem Cell Research

Granule cells control recovery from classical conditioned fear responses in the zebrafish cerebellum

(2017) Koji Matsuda et al.   Scientific Reports

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9

(2015) Gaurav K. Varshney et al.   GENOME RESEARCH

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

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

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism–Epilepsy Phenotype with Macrocephaly

(2015) Maria Marchese et al.   NEUROMOLECULAR MEDICINE

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

(2014) Theresa P.T. Nguyen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

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

Efficient Mutagenesis by Cas9 Protein-Mediated Oligonucleotide Insertion and Large-Scale Assessment of Single-Guide RNAs

(2014) James A. Gagnon et al.   PLoS One

Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system

(2013) Li-En Jao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Coenzyme Q10 increases the fatty acid oxidation through AMPK-mediated PPARα induction in 3T3-L1 preadipocytes

(2012) Soo Kyung Lee et al.   CELLULAR SIGNALLING

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

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

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders

(2011) Marco Spinazzi et al.   MITOCHONDRION

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

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

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

Coenzyme Q10 distribution in blood is altered in patients with Fibromyalgia

(2008) M.D. Cordero et al.   CLINICAL BIOCHEMISTRY

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols