Elena Sendino Garví

This study shows that loss of nephrocystin-1 in kidney organoids impairs DNA repair, increases senescence, and leads to fibrosis, revealing a new role for NPHP1 in DNA damage response.

This paper develops a KCNJ16-depleted kidney organoid model to study a genetic kidney tubulopathy, showing that statin treatment reduces lipid accumulation and fibrosis.

This paper demonstrates that synthetic CTNS mRNA therapy can restore cystinosin function and reduce cystine accumulation in kidney cells and zebrafish models of cystinosis.

This study uses CRISPR/Cas9 HITI to repair CTNS in ciPTEC cells, achieving functional cystinosin restoration and reversing the cystinotic phenotype.