A5034337497- Neurogenesis and neuroplasticity mechanisms
- Mitochondrial Function and Pathology
- Nerve injury and regeneration
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
- Axon Guidance and Neuronal Signaling
- Neuroendocrine Tumor Research Advances
- Sphingolipid Metabolism and Signaling
- Biochemical and Molecular Research
- Glycogen Storage Diseases and Myoclonus
- ATP Synthase and ATPases Research
- Chronic Lymphocytic Leukemia Research
- Muscle Physiology and Disorders
- Molecular Biology Techniques and Applications
- Neuroinflammation and Neurodegeneration Mechanisms
- Cardiomyopathy and Myosin Studies
- PI3K/AKT/mTOR signaling in cancer
- Cancer, Hypoxia, and Metabolism
- Advanced Breast Cancer Therapies
- Inflammasome and immune disorders
- Escherichia coli research studies
- Coenzyme Q10 studies and effects
- Hereditary Neurological Disorders
- Nuclear Structure and Function
- Bacterial Genetics and Biotechnology
Instituto de Investigación Biomédica de Málaga
2014-2024
Andalusian Centre for Nanomedicine and Biotechnology
2022-2024
Hospital Regional Universitario de Málaga
2008-2023
Institut du Cerveau
2018-2022
Inserm
2019-2022
Centre National de la Recherche Scientifique
2019-2022
Sorbonne Université
2019-2022
Assistance Publique – Hôpitaux de Paris
2022
Université Paris Cité
2020-2022
Universidad de Málaga
2005-2020
Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for DNA (mtDNA) maintenance. Mutations nuclear gene, TK2, cause TK2 deficiency, which manifests predominantly children as myopathy with mtDNA depletion. Molecular bypass therapy products, deoxycytidine monophosphate (dCMP) and deoxythymidine (dTMP), prolongs life span of Tk2-deficient (Tk2-/- ) mice by 2- to 3-fold. Because we observed rapid catabolism deoxynucleoside monophosphates (dT)...
MS-derived oligodendrocytes conserve their ability to fully interact with axons and glial cells in vivo.
<h3>Importance</h3> Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application "MitoExome" sequencing (deep the entire mitochondrial genome and coding exons >1000 nuclear genes encoding proteome) allowed us to reveal an unusual clinical variant due a novel homozygous mutation in<i>ACAD9</i>. The patient had infantile-onset but slowly progressive encephalomyopathy responded favorably riboflavin therapy. <h3>Observation</h3> A...
Calpastatin is the endogenous, specific protein inhibitor of calcium‐dependent protease, calpain. Using an active site knock‐out m‐calpain mutant we have studied enzyme's binding to calpastatin by surface plasmon resonance without complication proteolysis. was capable simultaneously four molecules Its inhibitory domains (CAST1, 2, 3, and 4) were individually expressed in Escherichia coli kinetics their interaction with calpain separately compared. Their K d values ranged from picomolar...
Ataxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX, which encodes the DNA strand-break repair protein aprataxin (APTX). CoQ10 deficiency has been identified fibroblasts and muscle of AOA1 patients carrying common W279X mutation, localized to mitochondria neuroblastoma cells, where it enhances preservation mitochondrial function. In this study, we show that impairs function, independent its role repair. The bioenergetics defect AOA1-mutant...
Balanced pools of deoxyribonucleoside triphosphate precursors are required for DNA replication, and alterations this balance relevant to human mitochondrial diseases including neurogastrointestinal encephalopathy. In disease, autosomal recessive TYMP mutations cause severe reductions thymidine phosphorylase activity; marked elevations the pyrimidine nucleosides deoxyuridine in plasma tissues, somatic multiple deletions, depletion site-specific point DNA. Thymidine uridine double knockout...
Schwann cells (SC) enter the central nervous system (CNS) in pathophysiological conditions. However, how SC invade CNS to remyelinate axons remains undetermined. We studied migratory behavior ex vivo and after exogenous transplantation demyelinated spinal cord. The data highlight for first time that migrate preferentially along blood vessels perivascular extracellular matrix (ECM), avoiding myelin. demonstrate vitro this migration route occurs by virtue of a dual mode action Eph/ephrin...
The presence of putative stem/progenitor cells has been suggested in adult peripheral nervous system (PNS) tissue, including the dorsal root ganglion (DRG). To date, their identification and fate pathophysiological conditions have not addressed. Combining multiple vitro vivo approaches, we identified stem DRG satellite glial population, progenitors were present DRGs sciatic nerve. Cell-specific transgenic mouse lines highlighted proliferative potential vitro. had gliogenic neurogenic...
A member of the four-and-a-half-LIM (FHL) domain protein family, FHL1, is highly expressed in human adult skeletal and cardiac muscle. Mutations FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal (SP) myopathy, reducing body myopathy postural atrophy, rigid spine syndrome (RSS) Emery-Dreifuss muscular dystrophy. In 2008, we identified a missense mutation second LIM (c.365 G>C, p.W122S) family SP myopathy. We generated knock-in mouse model harboring c.365 G>C...
Accumulating evidences suggest a strong correlation between metabolic changes and neurodegeneration in CNS demyelinating diseases such as multiple sclerosis (MS). Biotin, an essential cofactor for five carboxylases, is expressed by oligodendrocytes involved fatty acid synthesis energy production. The effect of biotin or high-dose-biotin (MD1003) has been reported on rodent vitro, neurodegenerative animal models. However, clinical studies, showed mild no beneficial MD1003 amyotrophic lateral...
Slit1 is a secreted axon guidance molecule, also involved in adult neurogenesis. In physiological conditions, loss promotes ectopic dispersal of SVZ-derived neural precursors (SVZ-NPCs) into periventricular structures such as the corpus callosum. Demyelination callosum triggers SVZ-NPC migration to locations and their recruitment by lesion, suggesting possible role for SVZ-NPCs regulation pathological conditions. Here, we have investigated function protein after CNS demyelination. We find...