A5066005019- Mitochondrial Function and Pathology
- Retinal Development and Disorders
- ATP Synthase and ATPases Research
- Neuroscience and Neuropharmacology Research
- Retinal Diseases and Treatments
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- interferon and immune responses
- Wnt/β-catenin signaling in development and cancer
- RNA Research and Splicing
- Apelin-related biomedical research
- NF-κB Signaling Pathways
- Alzheimer's disease research and treatments
- Cerebrospinal fluid and hydrocephalus
- Epigenetics and DNA Methylation
- Traumatic Brain Injury and Neurovascular Disturbances
- Corporate Governance and Law
- Redox biology and oxidative stress
- Corporate Insolvency and Governance
- Biological Research and Disease Studies
- Glaucoma and retinal disorders
- Adipokines, Inflammation, and Metabolic Diseases
- Renin-Angiotensin System Studies
- Ubiquitin and proteasome pathways
- Congenital heart defects research
Universitat de Barcelona
2012-2024
Biomedical Research Networking Center on Neurodegenerative Diseases
2012-2024
Instituto de Salud Carlos III
2013-2024
Centre for Biomedical Network Research on Rare Diseases
2019-2024
Centro de Investigación Biomédica en Red
2016-2024
Stazione Zoologica Anton Dohrn
2024
Institut de Biomedicina de la Universitat de Barcelona
2021-2023
Institut de Recerca Sant Joan de Déu
2022
Sant Joan de Déu Research Foundation
2022
Hospital Sant Joan de Déu Barcelona
2021
Brain function requires neuronal activity-dependent energy consumption. Neuronal supply is controlled by molecular mechanisms that regulate mitochondrial dynamics, including Kinesin motors and Mitofusins, Miro1-2 Trak2 proteins. Here we show a new protein family localizes to the mitochondria controls dynamics. This of proteins encoded an array armadillo (Arm) repeat-containing genes located on X chromosome. The Armcx cluster unique Eutherian mammals evolved from single ancestor gene...
Mitochondrial function and dynamics are essential for neurotransmission, neural neuronal viability. Recently, we showed that the eutherian-specific Armcx gene cluster (Armcx1-6 genes), located in X chromosome, encodes a new family of proteins localise to mitochondria, regulating mitochondrial trafficking. The evolved by retrotransposition Armc10 mRNA, which is present all vertebrates considered be ancestor gene. Here investigate genomic organisation, functions putative neuroprotective role...
The retina is a highly active metabolic organ that displays particular vulnerability to genetic and environmental factors causing stress homeostatic imbalance. Mitochondria constitute bioenergetic hub coordinates response cellular homeostasis, therefore structural functional regulation of the mitochondrial dynamic network essential for mammalian retina. CERKL (ceramide kinase like) retinal degeneration gene whose mutations cause Retinitis Pigmentosa in humans, visual disorder characterized...
Activation of NF-κB transcription factor is strictly regulated to accurately direct cellular processes including inflammation, immunity, and cell survival. In the retina, modulation pathway essential prevent excessive inflammatory responses, which plays a pivotal role in many retinal neurodegenerative diseases, such as age-related macular degeneration (AMD), diabetic retinopathy (DR), inherited dystrophies (IRDs). A critical cytokine mediating responses cells tumor necrosis factor-alpha...
3,4-Methylenedioxymethamphetamine (MDMA; "ecstasy") is a potentially neurotoxic recreational drug of abuse. Though the mechanisms involved are still not completely understood, formation reactive metabolites and mitochondrial dysfunction contribute to MDMA-related neurotoxicity. Neuronal trafficking, their targeting synapses, essential for proper neuronal function survival, rendering neurons particularly vulnerable dysfunction. Indeed, MDMA-associated disruption Ca(2+) homeostasis ATP...
Mitochondrial dynamics and trafficking are essential to provide the energy required for neurotransmission neural activity. We investigated how G protein-coupled receptors (GPCRs) proteins control mitochondrial trafficking. The activation of Gα
The regulation of mitochondrial dynamics is vital in complex cell types, such as neurons, that transport and localize mitochondria high energy-demanding domains. Armcx3 gene encodes a mitochondrial-targeted protein (Alex3) contains several arm-like In previous study we showed Alex3 regulates aggregation trafficking. Here studied the contribution Wnt proteins to regulated by Alex3. Overexpression HEK293 cells caused marked mitochondria, which was attenuated treatment with Wnts. We also found...
Abstract Background One of the most unusual sources phylogenetically restricted genes is molecular domestication transposable elements into a host genome as functional genes. Although these kinds events are sometimes at core key macroevolutionary changes, their origin and organismal function generally poorly understood. Results Here, we identify several previously unreported element in human mouse genomes. Among them, find remarkable that gave rise to multigenic family placental mammals,...
Purpose: Close to 100 genes cause retinitis pigmentosa, a Mendelian rare disease that affects 1 out of 4000 people worldwide. Mutations in the ceramide kinase-like gene (CERKL) are prevalent autosomal recessive pigmentosa and cone–rod dystrophy, but functional role this retina has yet be fully determined. We aimed generate mouse model resembles phenotypic traits patients carrying CERKL mutations undertake studies assay therapeutic approaches. Methods: The Cerkl locus been deleted (around 97...
The eutherian X-chromosome specific family of Armcx genes has been described as originating by retrotransposition from Armc10/SVH, a single Arm-containing somatic gene. Armcx3 and Armc10/SVH are characterized high expression in the central nervous system they play an important role regulation mitochondrial distribution transport neurons. In addition, Armcx/Arm10 have several Armadillo repeats their sequence. this study we address potential gene neural development using chick tube model. We...
The retina is particularly vulnerable to genetic and environmental alterations that generate oxidative stress cause cellular damage in photoreceptors other retinal neurons, eventually leading cell death. CERKL (CERamide Kinase-Like) mutations Retinitis Pigmentosa Cone-Rod Dystrophy humans, two disorders characterized by photoreceptor degeneration progressive vision loss. a resilience gene against stress, its overexpression protects cells from stress-induced apoptosis. Besides, contributes...
ARMCX3 is encoded by a member of the Armcx gene family and known to be involved in nervous system development function. We found that markedly upregulated mouse liver response high lipid availability, hepatic patients with NAFLD hepatocellular carcinoma (HCC). Mice were subjected invalidation (inducible knockout) then exposed high-fat diet diethylnitrosamine-induced hepatocarcinogenesis. The effects experimental knockdown or overexpression HCC cell lines also analyzed. protected mice against...
The precise function of CERKL, a Retinitis Pigmentosa (RP) causative gene, is not yet fully understood. There evidence that CERKL involved in the regulation autophagy, stress granules, and mitochondrial metabolism, it considered gene resilient against oxidative retina. Mutations most RP genes affect photoreceptors, but retinal pigment epithelium (RPE) cells may be also altered. Here, we aimed to analyze effect overexpression depletion vivo vitro, focusing on state network under conditions....
Mutations in the Ceramide Kinase-like (CERKL) gene cause retinal dystrophies, characterized by progressive degeneration of neurons, which eventually lead to vision loss. Among other functions, CERKL is involved regulation autophagy, mitochondrial dynamics, and metabolism retina. However, nearly ubiquitously expressed, it has been recently described play a protective role against brain injury. Here we show that Cerkl expressed hippocampus, use mouse hippocampal neurons explore impact either...