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

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

(2017) Erika Ogawa et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Leigh syndrome: One disorder, more than 75 monogenic causes

(2015) Nicole J. Lake et al.   ANNALS OF NEUROLOGY

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

(2015) Gabriele Civiletto et al.   Cell Metabolism

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

(2015) Rikke K. J. Olsen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

A guide to diagnosis and treatment of Leigh syndrome

(2013) F. Baertling et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mitochondrial dysfunction and the inflammatory response

(2013) María J. López-Armada et al.   MITOCHONDRION

Primary Respiratory Chain Disease Causes Tissue-Specific Dysregulation of the Global Transcriptome and Nutrient-Sensing Signaling Network

(2013) Zhe Zhang et al.   PLoS One

mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome

(2013) S. C. Johnson et al.   SCIENCE

Heterogeneity of Coenzyme Q10Deficiency

(2012) Valentina Emmanuele et al.   ARCHIVES OF NEUROLOGY

CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders

(2012) Michio Hirano et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

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

Coenzyme Q – Biosynthesis and functions

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

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

Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

(2008) Raquel Montero et al.   CLINICAL BIOCHEMISTRY