C. Quinzii

H. Mitsumoto, L. Rowland, A. Hays, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Mutations in coenzyme Q10 biosynthetic genes.

S. Dimauro, M. Hirano, C. Quinzii, 2007, The Journal of clinical investigation.

Human CoQ10 deficiencies

S. Dimauro, M. Hirano, A. Naini, 2008, BioFactors.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

A. Singleton, J. Hardy, M. Bitner-Glindzicz, 2009, American journal of human genetics.

CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

M. Hirano, C. Garone, C. Quinzii, 2012, Biochimica et biophysica acta.

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

S. Dimauro, M. Schuelke, S. Rahman, 2010, PloS one.

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

N. Drouot, S. Dimauro, F. Plewniak, 2008, American journal of human genetics.

Mechanisms and Therapeutic Effects of Benzoquinone Ring Analogs in Primary CoQ Deficiencies

C. Quinzii, A. Hidalgo-Gutiérrez, Alba Pesini, 2022, Antioxidants.

Coenzyme Q10 as a Peripheral Biomarker for Multiple System Atrophy.

S. Kuo, C. Quinzii, 2016, JAMA neurology.

Mutant COQ2 in multiple-system atrophy.

S. Dimauro, M. Hirano, C. Quinzii, 2014, The New England journal of medicine.

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.

S. Dimauro, V. Emmanuele, M. Hirano, 2012, Archives of neurology.

Therapies Approaches in Mitochondrial Diseases

V. Emmanuele, M. Hirano, C. Quinzii, 2021, Mitochondrial Diseases.

Emerging therapies for mitochondrial diseases.

V. Emmanuele, M. Hirano, C. Quinzii, 2018, Essays in biochemistry.

Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK.

J. Pedroso, M. H. Barros, M. Chiaratti, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.

S. Dimauro, R. Rodenburg, M. Schuelke, 2006, American journal of human genetics.

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

S. Dimauro, R. Carrozzo, M. Koenig, 2010, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

S. Dimauro, P. Navas, E. Trevisson, 2007, Human molecular genetics.

CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway.

Changhong Qiao, E. Barca, V. Emmanuele, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Restoring balance to ataxia with coenzyme Q10 deficiency

S. Dimauro, M. Hirano, C. Quinzii, 2006, Journal of the Neurological Sciences.

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

V. Mootha, S. Dimauro, H. Akman, 2005, Neurology.

Primary and secondary CoQ(10) deficiencies in humans.

M. Hirano, C. Quinzii, 2011, BioFactors.

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

D. Acuña-Castroviejo, L. C. López, G. Escames, 2015, EMBO molecular medicine.

Coenzyme Q and mitochondrial disease.

M. Hirano, C. Quinzii, 2010, Developmental disabilities research reviews.

Human Coenzyme Q10 Deficiency

S. Dimauro, M. Hirano, C. Quinzii, 2006, Neurochemical Research.

Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era

C. Quinzii, A. Berardo, 2020, Journal of translational genetics and genomics.

Coenzyme Q10 Deficiency

C. Quinzii, L. C. López, L. C. Lopez, 2019, Diagnosis and Management of Mitochondrial Disorders.

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

V. Tiranti, R. Rodenburg, M. Schuelke, 2016, EMBO molecular medicine.

Metabolic Targets of Coenzyme Q10 in Mitochondria

M. E. Díaz-Casado, L. C. López, C. Quinzii, 2021, Antioxidants.

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

N. Sondheimer, J. Cameron, S. Hewson, 2017, Molecular genetics and metabolism reports.

Clinical Presentations of Coenzyme Q10 Deficiency Syndrome

V. Emmanuele, M. Hirano, C. Quinzii, 2014, Molecular Syndromology.

Effects of Inhibiting CoQ10 Biosynthesis with 4-nitrobenzoate in Human Fibroblasts

M. Hirano, A. Naini, C. Quinzii, 2012, PloS one.

Ataxia (Familial Cerebellar) with Muscle CoQ 10 Deficiency

M. Hirano, C. Quinzii, 2010 .

High-mobility group box 1 is dispensable for autophagy, mitochondrial quality control, and organ function in vivo.

R. Schwabe, M. Czaja, R. Friedman, 2014, Cell metabolism.

Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice

S. Homma, F. Sera, V. Emmanuele, 2018, Human molecular genetics.

Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism

H. Prokisch, L. C. López, G. Escames, 2020, Human molecular genetics.

Coenzyme Q 10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism

H. Prokisch, L. C. López, G. Escames, 2020 .

The Role of Sulfide Oxidation Impairment in the Pathogenesis of Primary CoQ Deficiency

G. Kleiner, C. Quinzii, Marta Luna-Sánchez, 2017, Front. Physiol..

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency

S. Dimauro, M. Schuelke, L. Salviati, 2008, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Inhibition of Bcl-2/Bcl-xL and c-MET causes synthetic lethality in model systems of glioblastoma

M. Westhoff, G. Karpel-Massler, M. Siegelin, 2018, Scientific Reports.

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

S. Dimauro, C. Angelini, G. Basso, 2005, Neurology.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

V. Mootha, G. Comi, M. Minczuk, 2013, Nature Genetics.

Abnormalities of hydrogen sulfide and glutathione pathways in mitochondrial dysfunction

L. C. López, C. Quinzii, L. López, 2020, Journal of advanced research.

Chapter 34 – Primary Cerebellar CoQ10 Deficiency

E. Barca, M. Hirano, C. Quinzii, 2016 .

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

V. Pertegato, S. Dimauro, P. Navas, 2012, Journal of Medical Genetics.

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

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.

S. Dimauro, D. D. De Vivo, M. Hirano, 2006, American journal of human genetics.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

S. Homma, V. Emmanuele, H. Akman, 2015, Human molecular genetics.

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

K. Wilhelmsen, S. Barral, L. Rowland, 2008, American journal of human genetics.

Supercompetitor status of Drosophila Myc cells requires p53 as a fitness sensor to reprogram metabolism and promote viability.

L. Johnston, Laura A. Johnston, P. Bellosta, 2014, Cell metabolism.

Targeting a Braf/Mapk pathway rescues podocyte lipid peroxidation in CoQ deficiency kidney disease.

Jamie L. Marshall, C. Clish, M. Kost-Alimova, 2021, The Journal of clinical investigation.

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

V. Emmanuele, H. Akman, M. Hirano, 2014, EMBO molecular medicine.

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

S. Dimauro, H. Prokisch, K. Gempel, 2007, Brain : a journal of neurology.

Regulatory environment for novel therapeutic development in mitochondrial diseases

K. Engelstad, E. Barca, V. Emmanuele, 2020, Journal of inherited metabolic disease.

Aurora kinase A inhibition reverses the Warburg effect and elicits unique metabolic vulnerabilities in glioblastoma

P. Canoll, J. Bruce, Angeliki Mela, 2021, Nature Communications.

HDAC inhibitors elicit metabolic reprogramming by targeting super-enhancers in glioblastoma models.

P. Canoll, A. Harmanci, Junfei Zhao, 2020, The Journal of clinical investigation.

Inhibition of Bcl-2/Bcl-xL and c-MET causes synthetic lethality in model systems of glioblastoma

M. Westhoff, G. Karpel-Massler, M. Siegelin, 2018, Scientific Reports.

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy

S. Salani, N. Bresolin, G. Comi, 2018, Stem cell reports.

MET Inhibition Elicits PGC1α-Dependent Metabolic Reprogramming in Glioblastoma.

P. Canoll, Junfei Zhao, J. Bruce, 2019, Cancer research.

Activation of LXRβ inhibits tumor respiration and is synthetically lethal with Bcl‐xL inhibition

P. Canoll, E. Shang, M. Westhoff, 2019, EMBO molecular medicine.

Metabolic Reprogramming by Dual AKT/ERK Inhibition through Imipridones Elicits Unique Vulnerabilities in Glioblastoma

M. Westhoff, T. Nguyen, G. Karpel-Massler, 2018, Clinical Cancer Research.

Inhibition of HDAC1/2 Along with TRAP1 Causes Synthetic Lethality in Glioblastoma Model Systems

E. Shang, M. Westhoff, T. Nguyen, 2020, Cells.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

S. Dimauro, R. Horvath, S. Sanna-Cherchi, 2012, American Journal of Human Genetics.

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

S. Dimauro, P. Navas, E. Trevisson, 2006, American journal of human genetics.

Inefficient thermogenic mitochondrial respiration due to futile proton leak in a mouse model of fragile X syndrome

Guang Yang, P. Licznerski, E. Jonas, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy

Nicole M. Sayles, S. Cloonan, H. Kawamata, 2022, Cell reports.

Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis

S. Dimauro, D. Vivo, M. H. Barros, 2008, Journal of the Neurological Sciences.

Combined HDAC and Bromodomain Protein Inhibition Reprograms Tumor Cell Metabolism and Elicits Synthetic Lethality in Glioblastoma

P. Canoll, Junfei Zhao, M. Westhoff, 2018, Clinical Cancer Research.

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

V. Pertegato, P. Navas, G. Basso, 2008, Biochemical and biophysical research communications.

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

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

A metabolic perspective on CSF-mediated neurodegeneration in multiple sclerosis.

M. Inglese, V. Fossati, J. Aramini, 2019, Brain : a journal of neurology.

Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum

E. Masliah, J. Vonsattel, E. Louis, 2016, Journal of neuropathology and experimental neurology.

Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias

S. Dimauro, E. Barca, V. Emmanuele, 2018, Current neuropharmacology.

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

S. Dimauro, K. Engelstad, E. Barca, 2015, JIMD reports.

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

E. Bertini, R. Carrozzo, G. Vasco, 2019, Parkinsonism & related disorders.

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

B. Castellotti, C. Mariotti, E. Barca, 2015, Human molecular genetics.

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3

S. Dimauro, S. Marino, F. Granata, 2016, Clinical genetics.

Growth differentiation factor-15 as a biomarker of strength and recovery in survivors of acute respiratory failure

D. Needham, M. Baldwin, E. Colantuoni, 2019, Thorax.

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

V. Mootha, S. Dimauro, H. Akman, 2005, Neurology.

High-mobility group box 1 is dispensable for autophagy, mitochondrial quality control, and organ function in vivo.

R. Schwabe, M. Czaja, R. Friedman, 2014, Cell metabolism.

Inefficient thermogenic mitochondrial respiration due to futile proton leak in a mouse model of fragile X syndrome

Guang Yang, P. Licznerski, E. Jonas, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

K. Wilhelmsen, S. Barral, L. Rowland, 2008, American journal of human genetics.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

S. Dimauro, R. Horvath, S. Sanna-Cherchi, 2012, American journal of human genetics.

Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

E. Huey, H. Mitsumoto, S. Kuo, 2014, JAMA neurology.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

S. Homma, V. Emmanuele, H. Akman, 2015, Human molecular genetics.

Coenzyme Q and mitochondrial disease.

M. Hirano, C. Quinzii, 2010, Developmental disabilities research reviews.

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3

F. Granata, E. Barca, F. Montagnese, 2016, Clinical genetics.

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.

S. Dimauro, V. Emmanuele, M. Hirano, 2012, Archives of neurology.

Multisystemic Infantile CoQ10 Deficiency with Renal Involvement

C. Quinzii, M. Loos, 2016 .

4-Hydroxybenzoic acid rescues multisystemic disease and perinatal lethality in a mouse model of mitochondrial disease.

M. E. Díaz-Casado, C. Quinzii, Pilar González-García, 2024, Cell reports.

CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway.

Changhong Qiao, E. Barca, V. Emmanuele, 2018, Biochimica et biophysica acta. Molecular basis of disease.