A5103043826- Amino Acid Enzymes and Metabolism
- RNA regulation and disease
- Kidney Stones and Urolithiasis Treatments
- Genomic variations and chromosomal abnormalities
- Forensic and Genetic Research
- RNA and protein synthesis mechanisms
- Molecular Biology Techniques and Applications
- Cancer Genomics and Diagnostics
- RNA Interference and Gene Delivery
- Folate and B Vitamins Research
- Molecular Sensors and Ion Detection
- Connexins and lens biology
- Liver physiology and pathology
- Erythrocyte Function and Pathophysiology
- Genetics and Neurodevelopmental Disorders
- Genetic and Kidney Cyst Diseases
- MicroRNA in disease regulation
- Multiple and Secondary Primary Cancers
- Metastasis and carcinoma case studies
- Bladder and Urothelial Cancer Treatments
- Neuroscience of respiration and sleep
- Biomedical Research and Pathophysiology
- Multiple Myeloma Research and Treatments
- Congenital heart defects research
- Neuroscience and Neuropharmacology Research
Institut d'Investigació Biomédica de Bellvitge
2015-2025
Centre for Biomedical Network Research on Rare Diseases
2018-2025
Instituto de Salud Carlos III
2018-2025
Universitat de Barcelona
2018-2024
Centro de Investigación Biomédica en Red
2018-2020
Departament de Salut
2020
Instituto de Investigación de Enfermedades Raras
2018-2020
Laboratory of Molecular Genetics
2018
Research Network (United States)
2018
Groupe des Écoles Nationales d'Économie et Statistique
2018
Liver fibrosis is a major health problem with multiple associated complications, which, to date, has no effective treatment. Hepatic stellate cells are the main responsible for formation; upon their activation, excess accumulation of extracellular matrix and collagen deposits occurs. The mitogen platelet-derived growth factor (PDGF) its receptor β (PDGFRβ) play role in hepatic activation are, therefore, promising targets antifibrotic therapies. Gold nanorods hold great potential diseased...
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an ultrarare, infantile-onset leukodystrophy characterized by white matter edema for which there no treatment. More than 70% of diagnosed cases result from biallelic loss-of-function mutations in the astrocyte-specific gene MLC1, leading to early-onset macrocephaly, cerebellar ataxia, epilepsy, and mild cognitive decline. To develop a therapy MLC, we administered adeno-associated viral vector capable crossing murine...
Age-related hearing loss (ARHL) is the most common sensory deficit in elderly. The disease has a multifactorial etiology with both environmental and genetic factors involved being largely unknown. SLC7A8/SLC3A2 heterodimer neutral amino acid exchanger. Here, we demonstrated that SLC7A8 expressed mouse inner ear its ablation resulted ARHL, due to damage of different cochlear structures. These findings make transporter strong candidate for ARHL humans. Thus, screening cohort patients controls...
Cataract, the loss of ocular lens transparency, accounts for ~50% worldwide blindness and has been associated with water solute transport dysfunction across cellular barriers. We show that neutral amino acid antiporter LAT2 (Slc7a8) uniporter TAT1 (Slc16a10) are expressed on mouse ciliary epithelium also in epithelium. Correspondingly, deletion induced a dramatic decrease essential levels was modulated by defect. Interestingly, absence led to increased incidence cataract mice, particular...
Background Reabsorption of amino acids (AAs) across the renal proximal tubule is crucial for intracellular and whole organism AA homeostasis. Although luminal transport step well understood, with several diseases caused by dysregulation this process, basolateral not understood. In humans, only cationic aminoaciduria due to malfunction transporter y + LAT1/CD98hc (SLC7A7/SLC3A2), which mediates export AAs, has been described. Thus, physiologic roles transporters neutral such as antiporter...
The high recurrence rate of cystine lithiasis observed in cystinuria patients highlights the need for new therapeutic options to address this chronic disease. There is growing evidence an antioxidant defect cystinuria, which has led test molecules as approaches. In study, l-Ergothioneine was evaluated, at two different doses, a preventive and long-term treatment Slc7a9-/- mouse model. treatments decreased stone formation by more than 60% delayed its onset those mice that still developed...
ClC-K/barttin channels are involved in the transepithelial transport of chloride kidney and inner ear. Their physiological role is crucial humans because mutations CLCNKB or BSND, encoding ClC-Kb barttin, cause Bartter's syndrome types III IV, respectively. In vitro experiments have shown that an amino acid change a proline-tyrosine motif C-terminus barttin stimulates ClC-K currents. The molecular mechanism this enhancement whether potentiation has any vivo relevance remains unknown. We...
Prognosis (case series) Level of Evidence 4.To estimate the relative risk developing a second primary neoplasm, in particular lung cancer, after having non-muscle-invasive bladder cancer (NMIBC).Patients were included study if they had developed NMIBC between 1995 and 2003. All clinical data extracted from medical records our institution's database. The interval neoplasms, smoking habits, histological subtypes survival also analysed. Patient follow-up was >or=5 years.We found 231 patients...
Cystinuria is an aminoaciduria caused by mutations in the genes that encode two subunits of amino acid transport system b0,+, responsible for renal reabsorption cystine and dibasic acids. The clinical symptoms cystinuria relate to nephrolithiasis, due precipitation urine. Mutations SLC3A1, which codes heavy subunit rBAT, cause type A, whereas SLC7A9, encodes light b0,+AT, B. By crossing Slc3a1-/- with Slc7a9-/- mice we generated a AB mouse model test digenic inheritance cystinuria. 9...
More than 20 years have passed since the identification of SLC3A1 and SLC7A9 as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in age lithiasis onset, recurrence, response to treatment, suggesting presence modulatory factors influencing severity. In 2016, a second renal cystine transporter, AGT1, encoded by SLC7A13 gene, was discovered. Although it discarded gene cystinuria, its possible effect remains unexplored. Thus, we analyzed function mouse...
The succes results in the pegylated interferon plus rivabarina therapy HCV-infected people has made an increase of prescription this treatment last years. Side-effects inclose neuropsychiatric symptoms as depressive and anxiety both simptoms disorders. prevalence disorders been described between 22%-38%, while 21% 64%. In penitentiary field, HCV depression are higher than general population. aim our study is to know od a population HCV- infected inmates treatede with interferon. This Centre...