A5032803804- Amino Acid Enzymes and Metabolism
- Kidney Stones and Urolithiasis Treatments
- RNA and protein synthesis mechanisms
- Ion channel regulation and function
- CRISPR and Genetic Engineering
- Ion Transport and Channel Regulation
- Porphyrin Metabolism and Disorders
- Folate and B Vitamins Research
- RNA regulation and disease
- Connexins and lens biology
- Biomedical Research and Pathophysiology
- Erythrocyte Function and Pathophysiology
- Molecular Sensors and Ion Detection
Universitat de Barcelona
2023-2024
Institut d'Investigació Biomédica de Bellvitge
2019-2024
Institute for Research in Biomedicine
2019
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...
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...
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy. Approximately 75% MLC patients have variants in MLC1, while the rest GLIALCAM, GPRC5B and AQP4. From GLIALCAM patients, classical benign phenotype can be distinguished, which recessive dominant inheritance observed, respectively. Here, we report new patient harboring two MLC1 radiological improvement. The heterozygous for c.597+37C>G c.895–1G>T affecting both mRNA splicing, latest...
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...