RT Dissertation/Thesis
T1 Novel genetic and molecular approaches to Polycystic Kidney Disease: A way to diagnose inconclusive cases and find new possible treatments
A1 Martínez Pulleiro, Raquel
K1 ADPKD
K1 SPLICING
K1 KIDNEY CYSTS
K1 metabolic dysregulation
AB Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease, mainly caused by mutations in the PKD1 (80%) and PKD2 (15%) genes. Patients develop renal cysts over time, which can lead to kidney failure and the need for renal replacement therapy. This thesis aimed to improve the genetic diagnosis of ADPKD, especially in cases with variants of uncertain significance (VUS). It also explored the molecular mechanisms of ADPKD through comparative proteomic analysis. The identification of pathogenic variants and insights into the molecular deregulation of ADPKD provide a foundation for developing targeted therapeutic strategies. Continued research is essential for advancing the diagnosis, treatment, and overall understanding of ADPKD.
YR 2025
FD 2025
LK https://hdl.handle.net/10347/42524
UL https://hdl.handle.net/10347/42524
LA eng
DS Minerva
RD 29 abr 2026