Publications by authors named "Marta Vecino-Perez"
Article Synopsis
- ClC-K/barttin channels play a vital role in chloride transport in the kidneys and inner ear, and mutations in their genes can lead to Bartter's syndrome.
- Research shows that a specific amino acid change in barttin enhances ClC-K currents, but the exact mechanism and significance in living organisms is still unclear.
- Experiments using Xenopus oocytes and mice indicate that mutations in a particular YxxØ motif on barttin can increase its stability at the plasma membrane and improve function, although these mutations do not change overall protein expression levels under certain diet conditions.
More than 20 years have passed since the identification of and as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting the presence of modulatory factors influencing cystinuria severity. In 2016, a second renal cystine transporter, AGT1, encoded by the gene, was discovered.
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