COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

Characterization, antioxidant capacity, and bioaccessibility of Coenzyme Q10 loaded whey protein nanoparticles

(2022) Qingguan Liu et al.   LWT-FOOD SCIENCE AND TECHNOLOGY

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy

(2022) Mahmoud Reza Ashrafi et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Neuroprotective effects of coenzyme Q10-loaded exosomes obtained from adipose-derived stem cells in a rat model of Alzheimer's disease

(2022) Mohsen Sheykhhasan et al.   BIOMEDICINE & PHARMACOTHERAPY

Optimized self-microemulsifying drug delivery system improves the oral bioavailability and brain delivery of coenzyme Q10

(2022) Thapa Chhitij et al.   DRUG DELIVERY

Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene

(2022) Aydan Değerliyurt et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Formulation, characterization, pharmacokinetics and antioxidant activity evaluation of Pinus koraiensis nuts oil based coenzyme Q10 loaded nanoemulsion

(2022) Ying Zhang et al.   INDUSTRIAL CROPS AND PRODUCTS

Water-soluble coenzyme Q10 provides better protection than lipid-soluble coenzyme Q10 in a rat model of chronic tacrolimus nephropathy

(2021) Sheng Cui et al.   KOREAN JOURNAL OF INTERNAL MEDICINE

Coenzyme Q10 Analogues: Benefits and Challenges for Therapeutics

(2021) Juan M. Suárez-Rivero et al.   Antioxidants

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

(2021) Albert Z. Lim et al.   ANNALS OF NEUROLOGY

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

(2021) Hao-Ling Cheng et al.   Translational Neurodegeneration

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes

(2020) Jin Sook Lee et al.   CLINICAL GENETICS

Clinico‐genetic, imaging and molecular delineation of COQ8A ‐ataxia: a multicenter study of 59 patients

(2020) Andreas Traschütz et al.   ANNALS OF NEUROLOGY

Bioavailability of coenzyme Q10 loaded in an oleogel formulation for oral therapy: Comparison with a commercial-grade solid formulation

(2020) Natalia Ehrenhaus Masotta et al.   INTERNATIONAL JOURNAL OF PHARMACEUTICS

Increased diagnostic yield in complex dystonia through exome sequencing

(2020) Thomas Wirth et al.   PARKINSONISM & RELATED DISORDERS

Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome

(2020) Chan-Mi Hong et al.   Frontiers in Neurology

Bioavailability of Coenzyme Q10: An Overview of the Absorption Process and Subsequent Metabolism

(2020) David Mantle et al.   Antioxidants

A novel COQ8A missense variant associated with a mild form of primary coenzyme Q10 deficiency type 4

(2020) Gang Liu et al.   CLINICAL BIOCHEMISTRY

Primary coenzyme Q10 deficiency due to COQ8A gene mutations

(2020) Linwei Zhang et al.   Molecular Genetics & Genomic Medicine

Transport via Niemann-Pick C1 Like 1 contributes to the intestinal absorption of ubiquinone

(2020) Shunsuke Nashimoto et al.   Drug Metabolism and Pharmacokinetics

Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency

(2020) Matthias Amprosi et al.   NEUROGENETICS

CoQ10 Deficient Endothelial Cell Culture Model for the Investigation of CoQ10 Blood–Brain Barrier Transport

(2020) Luke Wainwright et al.   Journal of Clinical Medicine

Clinical spectrum in multiple families with primary COQ 10 deficiency

(2020) Seyyed S. Hashemi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature

(2019) Adel Shalata et al.   NEUROCHEMICAL RESEARCH

Exophthalmos in Kearns-Sayre syndrome

(2019) Jenna Tauber et al.   JOURNAL OF AAPOS

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

Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia

(2019) Mohammadreza Hajjari et al.   GENE

Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey

(2019) Hatice Mutlu-Albayrak et al.   NEUROGENETICS

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

(2019) Serena Galosi et al.   PARKINSONISM & RELATED DISORDERS

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

(2018) Miao Sun et al.   GENETICS IN MEDICINE

Bioavailability of coenzyme Q 10 supplements depends on carrier lipids and solubilization

(2018) Guillermo López-Lluch et al.   NUTRITION

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

(2018) Marie Coutelier et al.   JAMA Neurology

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene

(2018) Magdalena Krygier et al.   CLINICAL GENETICS

Cellular factories for coenzyme Q10 production

(2017) Sean Qiu En Lee et al.   Microbial Cell Factories

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

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency

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

Identification and classification of small molecule kinases: insights into substrate recognition and specificity

(2016) Krishnadev Oruganty et al.   BMC EVOLUTIONARY BIOLOGY

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

(2016) E. Barca et al.   CLINICAL GENETICS

ADCK3mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

(2016) O. Hikmat et al.   EUROPEAN JOURNAL OF NEUROLOGY

Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

(2016) Jonathan A. Stefely et al.   MOLECULAR CELL

A novel CABC1/ADCK3 mutation in adult-onset cerebellar ataxia

(2016) K. Malgireddy et al.   PARKINSONISM & RELATED DISORDERS

The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene

(2015) M. Luna-Sanchez et al.   EMBO Molecular Medicine

Rescue of primary ubiquinone deficiency due to a novelCOQ7defect using 2,4–dihydroxybensoic acid

(2015) Christoph Freyer et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial ADCK3 Employs an Atypical Protein Kinase-like Fold to Enable Coenzyme Q Biosynthesis

(2015) Jonathan A. Stefely et al.   MOLECULAR CELL

Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency

(2014) Laura García-Corzo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions

(2014) Frank Hanisch et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The molecular genetics of coenzyme Q biosynthesis in health and disease

(2013) Leila N. Laredj et al.   BIOCHIMIE

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

(2013) Y.-T. Liu et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Prevalence of ataxia in children: A systematic review

(2013) K. E. Musselman et al.   NEUROLOGY

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

(2013) Cyril Mignot et al.   Orphanet Journal of Rare Diseases

Clinical and Molecular Features of POLG-Related Mitochondrial Disease

(2013) J. D. Stumpf et al.   Cold Spring Harbor Perspectives in Biology

Heterogeneity of Coenzyme Q10Deficiency

(2012) Valentina Emmanuele et al.   ARCHIVES OF NEUROLOGY

Classical MERRF phenotype associated with mitochondrial tRNALeu (m.3243A>G) mutation

(2012) Florian Brackmann et al.   EUROPEAN JOURNAL OF PEDIATRICS

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndrome

(2012) Morten Duno et al.   GENE

Diagnostic Approach to Childhood-Onset Cerebellar Atrophy

(2012) Almundher Al-Maawali et al.   JOURNAL OF CHILD NEUROLOGY

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

(2011) Alessandra Terracciano et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

(2011) Rita Horvath et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

A Drosophila model for primary coenzyme Q deficiency and dietary rescue in the developing nervous system

(2010) J. Grant et al.   Disease Models & Mechanisms

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

(2010) Mike Gerards et al.   MITOCHONDRION

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

(2010) Luis C. López et al.   PLoS One

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

Clinical and Brain MR Imaging Features Focusing on the Brain Stem and Cerebellum in Patients with Myoclonic Epilepsy with Ragged-Red Fibers due to Mitochondrial A8344G Mutation

(2007) S. Ito et al.   AMERICAN JOURNAL OF NEURORADIOLOGY