A5044029420- Coenzyme Q10 studies and effects
- Mitochondrial Function and Pathology
- Advanced battery technologies research
- Biochemical Acid Research Studies
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Histone Deacetylase Inhibitors Research
- Cancer, Hypoxia, and Metabolism
- Protein Degradation and Inhibitors
- Cancer therapeutics and mechanisms
- Glioma Diagnosis and Treatment
- Ubiquitin and proteasome pathways
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Microtubule and mitosis dynamics
- Genetic Neurodegenerative Diseases
- Folate and B Vitamins Research
- Muscle Physiology and Disorders
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Signaling Pathways in Disease
- Cancer, Lipids, and Metabolism
- Sulfur Compounds in Biology
- Parkinson's Disease Mechanisms and Treatments
- GDF15 and Related Biomarkers
Columbia University Irving Medical Center
2016-2025
Columbia University
2005-2023
University of Milan
2023
Ospedale Maggiore
2023
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2023
Ferrari (Italy)
2023
University of California, San Diego
2016
University of Messina
2016
NewYork–Presbyterian Hospital
2016
Yale University
2016
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families isolated myopathic phenotype of CoQ10 deficiency. The clinical, histological biochemical presentation our was very homogenous. All presented exercise intolerance, fatigue, proximal myopathy high serum CK. Muscle histology showed lipid accumulation subtle signs mitochondrial myopathy. Biochemical...
The Warburg effect is a tumor-related phenomenon that could potentially be targeted therapeutically. Here, we showed glioblastoma (GBM) cultures and patients' tumors harbored super-enhancers in several genes related to the effect. By conducting transcriptome analysis followed by ChIP-Seq coupled with comprehensive metabolite GBM models, found FDA-approved global (panobinostat, vorinostat) selective (romidepsin) histone deacetylase (HDAC) inhibitors elicited metabolic reprogramming concert...
Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed. CoQ10 was decreased both muscle and fibroblasts. Oral improved the neurologic picture but not renal dysfunction.
Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients these disorders improve CoQ10 supplementation. In a family ataxia and deficiency, analysis of genome-wide microsatellite markers suggested linkage the disease to chromosome 9p13 led identification aprataxin gene (APTX) mutation that causes oculomotor apraxia (AOA1 [MIM606350]). The authors' observations indicate may contribute pathogenesis AOA1.
Coenzyme Q(10) (CoQ(10)) is essential for electron transport in the mitochondrial respiratory chain and antioxidant defense. Last year, we reported first mutations CoQ(10) biosynthetic genes, COQ2, which encodes 4-parahydroxybenzoate: polyprenyl transferase; PDSS2, subunit 2 of decaprenyl diphosphate synthase. However, pathogenic mechanisms primary deficiency have not been well characterized. In this study, investigated consequence severe on bioenergetics, oxidative stress, defenses cultured...
Coenzyme Q10 (CoQ10) is essential for electron transport in the mitochondrial respiratory chain and antioxidant defense. The relative importance of defects, ROS production, apoptosis pathogenesis CoQ10 deficiency unknown. We determined previously that severe cultured skin fibroblasts harboring COQ2 PDSS2 mutations produces divergent alterations bioenergetics oxidative stress. Here, to better understand deficiency, we have characterized effects varying severities on production cells genetic...
Abstract Aurora kinase A (AURKA) has emerged as a drug target for glioblastoma (GBM). However, resistance to therapy remains critical issue. By integration of transcriptome, chromatin immunoprecipitation sequencing (CHIP-seq), Assay Transposase-Accessible Chromatin (ATAC-seq), proteomic and metabolite screening followed by carbon tracing extracellular flux analyses we show that genetic pharmacological AURKA inhibition elicits metabolic reprogramming mediated MYC targets concomitant...
Coenzyme Q10 (CoQ10) deficiency has been associated with an increasing number of clinical phenotypes that respond to CoQ10 supplementation. In two siblings encephalomyopathy, nephropathy and severe deficiency, a homozygous mutation was identified in the biosynthesis gene COQ2, encoding polyprenyl-pHB transferase. To confirm pathogenicity this mutation, we have demonstrated human wild-type, but not mutant functionally complements COQ2 defective yeast. addition, equivalent introduced yeast...
Abstract Alpers–Huttenlocher syndrome (AHS) an autosomal recessive hepatocerebral of early onset, has been associated with mitochondrial DNA (mtDNA) depletion and mutations in polymerase gamma gene ( POLG ). We have identified four patients mtDNA liver, who fulfilled criteria for AHS. All were compound heterozygous the G848S W748S mutations, previously reported progressive external ophtalmoplegia or ataxia. conclude that AHS should be included clinical spectrum is often which can cause...
Background Coenzyme Q10 (CoQ10) and its analogs are used therapeutically by virtue of their functions as electron carriers, antioxidant compounds, or both. However, published studies suggest that different ubiquinone may produce divergent effects on oxidative phosphorylation stress. Methodology/Principal Findings To test these concepts, we have evaluated the CoQ10, coenzyme Q2 (CoQ2), idebenone, vitamin C bioenergetics stress in human skin fibroblasts with primary CoQ10 deficiency. A final...
<h3>Background</h3> <i>COQ4</i> encodes a protein that organises the multienzyme complex for synthesis of coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>). A 3.9 Mb deletion chromosome 9q34.13 was identified in 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because encompassed COQ4, patient screened CoQ<sub>10</sub> deficiency. <h3>Methods</h3> complete molecular biochemical characterisation patient9s fibroblasts yeast model were performed. <h3>Results</h3> The...
Abstract Coenzyme Q 10 (CoQ or ubiquinone) is a lipid‐soluble component of virtually all cell membranes and has multiple metabolic functions. A major function CoQ to transport electrons from complexes I II complex III in the respiratory chain which resides mitochondrial inner membrane. Deficiencies (MIM 607426) have been associated with four clinical phenotypes: 1) encephalomyopathy characterized by triad recurrent myoglobinuria, brain involvement, ragged‐red fibers; 2) infantile...