A5026430307- Coenzyme Q10 studies and effects
- Mitochondrial Function and Pathology
- Advanced battery technologies research
- Biochemical Acid Research Studies
- ATP Synthase and ATPases Research
- Muscle metabolism and nutrition
- Metabolism and Genetic Disorders
- DNA Repair Mechanisms
- RNA and protein synthesis mechanisms
- Erythrocyte Function and Pathophysiology
- Cell death mechanisms and regulation
- Endoplasmic Reticulum Stress and Disease
- Anesthesia and Neurotoxicity Research
- SARS-CoV-2 and COVID-19 Research
- Muscle Physiology and Disorders
- Adipose Tissue and Metabolism
- interferon and immune responses
- Organic Chemistry Cycloaddition Reactions
- Renal and related cancers
- Phagocytosis and Immune Regulation
- Estrogen and related hormone effects
- Genomics, phytochemicals, and oxidative stress
- PARP inhibition in cancer therapy
- Cancer, Lipids, and Metabolism
- Enterobacteriaceae and Cronobacter Research
Centro Andaluz de Biología del Desarrollo
2016-2025
Universidad Pablo de Olavide
2016-2025
Junta de Andalucía
2015-2025
Instituto de Salud Carlos III
2015-2024
Centre for Biomedical Network Research on Rare Diseases
2009-2024
Instituto de Investigación de Enfermedades Raras
2023
Centro de Investigación Biomédica en Red
2015-2023
Consejo Superior de Investigaciones Científicas
2005-2019
MRC Mitochondrial Biology Unit
2012-2014
Wellcome Trust
2012-2014
Primary coenzyme Q10 (CoQ10) deficiencies are rare, clinically heterogeneous disorders caused by mutations in several genes encoding proteins involved CoQ10 biosynthesis. is an essential component of the electron transport chain (ETC), where it shuttles electrons from complex I or II to III. By whole-exome sequencing, we identified five individuals carrying biallelic COQ4. The precise function human COQ4 not known, but seems play a structural role stabilizing multiheteromeric that contains...
Alternative translation initiation (ATI) is a mechanism of producing multiple proteins from single transcript, which in some cases regulates trafficking to different cellular compartments, including mitochondria. Application genome-wide computational screen predicts cryptic mitochondrial targeting signal for 126 mouse and man that revealed when an AUG codon located downstream the canonical initiator methionine used as start site, we term ATI (dATI). Experimental evidence support dATI...
MPV17 is a mitochondrial protein of unknown function, and mutations in are associated with deoxyribonucleic acid (DNA) maintenance disorders. Here we investigated its most similar relative, MPV17L2, which also annotated as protein. Mitochondrial fractionation analyses demonstrate MPV17L2 an integral inner membrane protein, like MPV17. However, unlike MPV17, dependent on DNA, it absent from ρ0 cells, co-sediments sucrose gradients the large subunit ribosome monosome. Gene silencing results...
Amino acids are essential for cell growth and proliferation they can serve as precursors of protein synthesis, be remodelled nucleotide fat biosynthesis, or burnt fuel. Mitochondria energy producing organelles that additionally play a central role in amino acid homeostasis. One might expect mitochondrial metabolism to geared towards the production preservation when cells deprived an exogenous supply. On contrary, we find human respond starvation by upregulating acid-consuming processes...
COQ7 pathogenetic variants cause primary CoQ
Coenzyme Q (CoQ), a redox-active lipid, is comprised of quinone group and polyisoprenoid tail. It an electron carrier in the mitochondrial respiratory chain, cofactor other dehydrogenases, essential antioxidant. CoQ requires large set enzymes for its biosynthesis; mutations genes encoding these proteins cause primary deficiency, clinically genetically heterogeneous diseases. Patients with deficiency often respond to oral CoQ10 supplementation. Treatment however problematic because low...
Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes myopathy leading to decreased physical performance. Here, we report that haploinsufficiency ADCK2, a member aarF domain-containing protein kinase family, human is associated with liver dysfunction severe lipid droplets skeletal muscle. In order better understand etiology this rare disorder, generated heterozygous Adck2 knockout mouse model perform vivo cellular...
A growing number of DNA transacting proteins is found in the nucleus and mitochondria, including repair replication protein Flap endonuclease 1, FEN1. Here we show a truncated FEN1 isoform generated by alternative translation initiation, exposing mitochondrial targeting signal. The shortened form FEN1, which term FENMIT, localizes to based on import into isolated organelles, immunocytochemistry subcellular fractionation. In vitro FENMIT binds flap structures containing 5′ RNA flap, prefers...
Background Coenzyme Q (CoQ) is a lipophilic antioxidant that synthesized by mitochondrial complex integrated at least ten nuclear encoded COQ gene products. CoQ increases cell survival under different stress conditions, including DNA (mtDNA) depletion and treatment with cancer drugs such as camptothecin (CPT). We have previously demonstrated CPT induces biosynthesis in mammal cells. Methodology/Principal Findings activates NF-κB binds specifically to two κB binding sites present the...
Coenzyme Q (CoQ) is a key component of the mitochondrial respiratory chain carrying electrons from complexes I and II to complex III it an intrinsic respirasome. CoQ concentration highly regulated in cells order adapt metabolism cell challenges nutrient availability stress stimuli. At least 10 proteins have been shown be required for biosynthesis multi-peptide COQ7 central regulatory factor this pathway. We found that first 765 bp 3′-untranslated region (UTR) mRNA contains cis-acting...
Abstract Skeletal muscle adapts to different exercise training modalities with age; however, the impact of both variables at systemic and tissue levels is not fully understood. Here, adult old C57BL/6 male mice were assigned one three groups: sedentary, daily high-intensity intermittent (HIIT), or moderate intensity continuous (MICT) for 4 weeks, compatible older group’s capacity. Improvements in body composition, fasting blood glucose, strength mostly observed MICT group, while effects HIIT...