A5007704017- Ubiquitin and proteasome pathways
- Erythrocyte Function and Pathophysiology
- Hemoglobinopathies and Related Disorders
- RNA modifications and cancer
- DNA Repair Mechanisms
- Protease and Inhibitor Mechanisms
- Protein Tyrosine Phosphatases
- Circular RNAs in diseases
- Blood properties and coagulation
- Salivary Gland Disorders and Functions
- CRISPR and Genetic Engineering
- Caveolin-1 and cellular processes
- Oral microbiology and periodontitis research
- PARP inhibition in cancer therapy
- BRCA gene mutations in cancer
- Oral Health Pathology and Treatment
- Iron Metabolism and Disorders
- Trace Elements in Health
- Endoplasmic Reticulum Stress and Disease
- Amino Acid Enzymes and Metabolism
- Neurological and metabolic disorders
- Blood groups and transfusion
- Genetic Neurodegenerative Diseases
- Blood disorders and treatments
- Prostate Cancer Treatment and Research
Universitat Internacional de Catalunya
2020-2025
Universidad Complutense de Madrid
2024-2025
Hospital de Sant Pau
2022
Centre for Biomedical Network Research on Rare Diseases
2022
CIBBIM-Nanomedicine
2019
Vall d'Hebron Institute of Oncology
2019
Universitat Autònoma de Barcelona
2011-2018
Salivary Lactate Dehydrogenase (sLDH) levels seem to be higher in patients with Oral Squamous Cell Carcinoma (OSCC) and Potentially Malignant Disorders (OPMD) than a control group (CG). Case-control study. Patients OPMD [oral leukoplakia (OL) oral lichen planus (OLP)] OSCC who attended two services Spain were selected. sLDH saliva was measured. Epidemiological, periodontal specific variables related collected. A total of 92 included: 12 OSCC, 51 (17 OL 34 OLP), 29 controls. values the...
Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric involves low-protein diet citrulline supplementation. While this approach partially improves cationic acid plasma levels alleviates some symptoms, long-term suggested be detrimental may life-threatening complications characterized wide range hematological immunological abnormalities....
BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in are associated with increased risk of breast and ovarian cancer deficient tumors exquisitely sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors. Therefore, uncovering additional components this pathway extreme importance for further understanding development therapeutic vulnerabilities. Here, we identify EDC4, known component processing-bodies regulator mRNA decapping, as member...
Abstract Introduction Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on risk, we searched for novel components through protein physical interaction screens. Methods Protein interactions were screened using the yeast two-hybrid system. Co-affinity purifications endogenous co-immunoprecipitation assays performed to corroborate...
ABSTRACT Background Diabetes mellitus (DM) has been associated with salivary disorders such as xerostomia and hyposalivation. The aim of this study was to determine the prevalence these their risk factors in DM patients. Methods patients from two health centers were included. Epidemiological control‐related variables collected. Xerostomia Inventory filled out by unstimulated whole flow Logistic regression tests performed. Results A total 168 included (46.4% men, 53.6% women, mean age 72.54...
Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It characterized by mild severe normocytic anemia, jaundice, and splenomegaly owing hemolytic component. This often leads liver iron overload gallstones. CDA caused biallelic mutations in SEC23B gene. In this study, we report 9 new cases identify 16 pathogenic variants, 6 are novel. The newly reported variants...
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive deposition in parenchymal organs such as liver, heart, pancreas, and joints. It caused mutations at least five different genes. HFE the most common type of hemochromatosis, while non-HFE related are rare cases. Here, we describe six new patients HH from families. Two families (Family 1 2) have novel nonsense
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder produced mutations in responsive element (IRE) located 5′ untranslated regions (UTR) light (FTL) gene. A canonical IRE mRNA structure that interacts with regulatory proteins (IRP1 IRP2) to post-transcriptionally regulate expression related metabolism. Ferritin L H are responsible for storage...
Divalent metal-iron transporter 1 (DMT1) is a mammalian iron encoded by the SLC11A2 gene. DMT1 has vital role in homeostasis mediating uptake intestine and kidneys recovering from recycling endosomes after transferrin endocytosis. Mutations cause an ultra-rare hypochromic microcytic anemia with overload (AHMIO1), which been described eight patients so far. Here, we report two novel cases of this disease. The first proband homozygous for new splicing variant (c.762 + 35A > G), becoming...
BRCA2 is essential for homologous recombination DNA repair. mutations lead to genome instability and increased risk of breast ovarian cancer. Similarly, in BRCA2-interacting proteins are also known modulate sensitivity damage agents established cancer factors. Here we identify the tumor suppressor CDK5RAP3 as a novel helical domain-interacting protein. depletion induced resistance, single-strand annealing upregulation, reduced spontaneous damage-induced genomic instability, suggesting that...
ABSTRACT Friedreich Ataxia (FA) is a cardio-neurodegenerative disease caused by mutations in the frataxin gene, which result low expression. It well-established that deficiency affects iron homeostasis, but tissue-specificity of these alterations poorly understood. In this study, we have analyzed homeostasis FXNI151F mouse model, presents systemic and neurological defects resembling FA patients. Iron overload observed brain from 21-week old mice, both males females, it does not further...
Background: The IRP/IRE post-transcriptional regulatory system controls iron cellular level by modifying the expression of several proteins related to acquisition, mobilization and storage. This regulation is achieved binding IRP1 IRP2 IRE-containing UTRs in iron-deficient conditions. Previously we described complete IRP RNP regulon mice (Sanchez et al 2011 Blood) identifying more than 260 mRNAs that immunoprecipitate with and/or IRP2. Aims: Protein phosphatase 1 inhibitor subunit 1b,...
Abstract Lysinuric Protein Intolerance (LPI) is an inborn error of metabolism resulting from SLC7A7 deficiency that causes diminished plasma concentration cationic amino acids. The clinical picture highly heterogeneous among patients, who commonly present intolerance to protein intake and more severe complications such as hematological abnormalities kidney failure. Although current treatments aim address the metabolic defects LPI, they have been unsatisfactory when treating most symptoms....
Topic: 28. Enzymopathies, membranopathies and other anemias Background: We recently reported that RACGAP1 mutations are responsible for Congenital Dyserythropoietic Anemia (CDA) type IIIb, a rare autosomal recessive disease characterized by macrocytic anemia giant multinucleated erythroblasts in the bone marrow. So far, three have been identified causing CDA IIIb humans: Thr220Ala, Leu396Gln Pro432Ser, two latter affecting GAP domain. It was previously described complete abrogation of...
En este articulo se presenta uno de los resultados del proyecto investigacion que tuvo como objetivo identificar manera georreferenciada a nivel direcciones urbanas, patrones eventos delictivos fatales y no partir la informacion almacenada en el Observatorio Delito Municipio Pasto (Colombia) con tecnicas mineria datos. Para analizar un evento delictivo procesarlo geograficamente, construyo geocodificador bajo codigo abierto, urbanas municipio Pasto, permitio georreferenciar cada delictivo....