A5103261999- Aquaculture disease management and microbiota
- Vibrio bacteria research studies
- Cardiomyopathy and Myosin Studies
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Bacteriophages and microbial interactions
- Neurological diseases and metabolism
- Parathyroid Disorders and Treatments
- Cellular transport and secretion
- Prion Diseases and Protein Misfolding
- Neurological Complications and Syndromes
- Congenital heart defects research
- Force Microscopy Techniques and Applications
- Complement system in diseases
- Microtubule and mitosis dynamics
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Microbial infections and disease research
- Photosynthetic Processes and Mechanisms
- Protist diversity and phylogeny
- Cardiac pacing and defibrillation studies
- Carbohydrate Chemistry and Synthesis
- Cellular Mechanics and Interactions
- Erythrocyte Function and Pathophysiology
- Micro and Nano Robotics
- Antimicrobial Resistance in Staphylococcus
- Eosinophilic Disorders and Syndromes
Hospital General Universitario Gregorio Marañón
2021-2025
Centro de Investigación en Red en Enfermedades Cardiovasculares
2019-2025
Universidad Complutense de Madrid
2021-2025
ERN GUARD-Heart
2020-2025
Centro de Investigación Biomédica en Red
2025
Hospital Universitario Puerta de Hierro Majadahonda
2017-2024
Instituto de Salud Carlos III
2024
Health First
2022
Centre for Biomedical Network Research on Rare Diseases
2021
Harefield Hospital
2021
Variants in myosin heavy chain 7 (MYH7) are responsible for disease 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history MYH7-related DCM poorly described.We sought determine phenotype prognosis DCM. We also evaluated influence variant location on phenotypic expression.We studied data from 147 individuals DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited 29 international centers.At initial evaluation, 106...
Although systemic embolism is a potential complication in transthyretin amyloid cardiomyopathy (ATTR-CM), data about its incidence and prevalence are scarce. We studied the incidence, factors associated with embolic events ATTR-CM. Additionally, we evaluated according to type of oral anticoagulation (OAC) performance CHA
Aeromonas hydrophila is a gram-negative opportunistic pathogen in fish and humans. Many bacterial pathogens of animals plants have been shown to inject anti-host virulence determinants into the hosts via type III secretion system (TTSS). Degenerate primers based on lcrD family genes that are present every known TTSS allowed us locate gene cluster A. AH-1. A series genome walking steps helped identification 25 open reading frames encode proteins homologous those TTSSs other bacteria....
Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly recognized as a treatable cause of heart failure (HF). Advances in diagnosis and therapy have increased the number patients diagnosed at early stages, but prognostic data on without HF symptoms are lacking. Moreover, it unknown whether asymptomatic benefit from initiation transthyretin (TTR) stabilizers.The aim this study was to describe natural history prognosis ATTR-CM symptoms.Clinical characteristics outcomes with were...
Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated DCM onset these individuals are unknown. This study sought to determine new diagnosis G+ identify factors development. The authors evaluated 779 patients (age 35.8 ± 17.3 years; 459 [59%] females; 367 [47%] variants TTN) without followed at 25 Spanish centers. After a median follow-up 37.1 months (Q1-Q3: 16.3-63.8 months), 85 (10.9%) developed (incidence...
ABSTRACT Aeromonas hydrophila is a gram-negative opportunistic pathogen of animals and humans. The pathogenesis A. multifactorial. Genomic subtraction markers genomic islands (GIs) were used to identify putative virulence genes in PPD134/91. Two rounds led the identification 22 unique DNA fragments encoding 19 factors seven new open reading frames, which are commonly present eight strains examined. In addition, four GIs found, including O-antigen, capsule, phage-associated, type III...
ABSTRACT Mesophilic Aeromonas strains express a polar flagellum in all culture conditions, and certain produce lateral flagella on semisolid media or surfaces. Although have been described as colonization factor, little is known about their organization expression. Here we characterized the complete flagellar gene cluster of hydrophila AH-3 containing 38 genes, 9 which ( lafA-U ) reported previously. Among flgL L lafA structural genes found modification accessory factor maf-5 that involved...
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, gene encoding myosin-binding protein C (cMyBP-C), are leading cause of HCM. However, pathogenicity status hundreds MYBPC3 variants found patients remains unknown, as a consequence our incomplete understanding pathomechanisms triggered by HCM-causing variants. Here, we examined 44 nontruncating that classified HCM-linked or nonpathogenic according to cosegregation and population genetics...
ABSTRACT Mesophilic Aeromonas spp. constitutively express a single polar flagellum that helps the bacteria move to more favorable environments and is an important virulence colonization factor. Certain strains can also produce multiple lateral flagella in semisolid media or over surfaces. We have previously reported 16 genes ( flgN flgL ) constitute region 1 of hydrophila AH-3 biogenesis gene clusters. identified 39 new distributed four noncontiguous chromosome regions (regions 2 5). Region...
We have investigated the existence and genetic organization of a functional type III secretion system (TTSS) in mesophilic Aeromonas strain by initially using hydrophila AH-3. report for first time complete TTSS DNA sequence an that comprises 35 genes organized similar disposition as Pseudomonas aeruginosa. Using several gene probes, we also determined presence clinical or environmental strains different species: A. hydrophila, veronii, caviae. By one (ascV), were able to obtain defined...
Bacterial virulence can only be assessed by confronting bacteria with a host. Here, we present new simple assay to evaluate Aeromonas virulence, making use of Dictyostelium amoebae as an alternative host model. This modulated assess very different species.
The Aeromonas hydrophila type III secretion system (T3SS) has been shown to play a crucial role in this pathogen's interactions with its host. We previously described the genetic organization of T3SS cluster and existence at least one effector, called AexT, A. strain AH-3. In study, we analyzed expression regulon by analyzing activity aopN-aopD aexT promoters (T3SS machinery components respectively) means two different techniques: promoterless gfp fusions real-time PCR. AH-3 was induced...
Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium caused by mutations in sarcomeric proteins with mechanical roles, such as molecular motor myosin. Around half HCM-causing genetic variants target contraction modulator cardiac myosin-binding protein C (cMyBP-C), although underlying pathogenic mechanisms remain unclear since many these cause no alterations structure and stability. As an alternative pathomechanism, here we have examined whether perturb nanomechanics cMyBP-C,...
Genetic disease has recently emerged as a cause of cardiac conduction disorders (CCDs), but the diagnostic yield genetic testing and contribution different genes to CCD is still unsettled. This study sought determine in young adults with unknown etiology requiring pacemaker implantation. We also studied prevalence rare protein-altering variants across individual functional gene groups. performed whole exome sequencing 150 patients who had permanent implanted at age ≤60 years 14 Spanish...
An Aeromonas hydrophila AH-3 miniTn5 mutant unable to produce polar and lateral flagella was isolated, in which the transposon inserted into a gene whose encoded protein an orthologue of Campylobacter jejuni motility accessory factor (Maf) protein. In addition this gene, several other related genes were found cluster that adjacent region 2 flagellum. Mutation A. maf-2, neuB-like, flmD or neuA-like resulted non-motile cells swim swarm due absence both flagella. However, flagellins present but...
A mutation in galU that causes the lack of O34-antigen lipopolysaccharide (LPS) Aeromonas hydrophila strain AH-3 was identified. It proved A. GalU is a UDP-glucose pyrophosphorylase responsible for synthesis from glucose 1-phosphate and UTP. The mutant this showed two types LPS structures, represented by bands on gels. first one (slow-migrating band gels) corresponds to rough having complete core, with significant differences: it lacks terminal galactose residue LPS-core...
Comparison between the lipopolysaccharide (LPS) core structures of Aeromonas salmonicida subsp. A450 and hydrophila AH-3 shows great similarity in inner LPS part outer but some differences distal (residues ld-Hep, d-Gal, d-GalNAc). The three genomic regions encoding biosynthetic genes A. A450, which 2 3 have identical to those AH-3, were fully sequenced. region 1 showed seven genes: similar not one without any homology well-characterized gene. mutants with alterations that constructed, their...
The physiological functions of PrPC remain enigmatic, but the central domain, comprising highly conserved regions protein may play an important role. Indeed, a large number studies indicate that synthetic peptides containing residues 106–126 (CR) located in domain (CD, 95–133) are neurotoxic. comprises two chemically distinct subdomains, charge cluster (CC, 95–110) and hydrophobic region (HR, 112–133). aim present study was to establish individual cytotoxicity CC, HR CD. Our results show...
This study aims to investigate the prognostic significance of late gadolinium enhancement (LGE) in patients without coronary artery disease and with normal range left ventricular (LV) volumes ejection fraction.
ABSTRACT Mesophilic Aeromonas hydrophila strains of serotype O34 typically express smooth lipopolysaccharide (LPS) on their surface. A single mutation in the gene that codes for UDP N- acetylgalactosamine 4-epimerase ( gne ) confers O − phenotype (LPS without O-antigen molecules) a strain serotypes O18 and O34, but not O1 O2. The is present all mesophilic tested. No changes were observed LPS core mutant from A. AH-3 (serotype O34). antigen contains acetylgalactosamine, while no such sugar...
The mesophilic Aeromonas hydrophila AH-3 (serotype O34) strain shows two different UDP-hexose epimerases in its genome: GalE (EC 3.1.5.2) and Gne 3.1.5.7). Similar homologues were detected the strains tested. only UDP-galactose 4-epimerase activity, while is able to perform a dual activity (mainly UDP-N-acetyl galactosamine also 4-epimerase). We studied activities vitro of both vivo through lipopolysaccharide (LPS) structure A. gne mutants, galE galE-gne double independently complemented...