The lysosomal V-ATPase B1 subunit in renal proximal tubule is linked to nephropathic cystinosis
A. Jamalpoor, A. van Eerde, M. R. Lilien, C. A. van Gelder, E. A. Zaal, F. A. Valentijn, R. Broekhuizen, E. Zielhuis, J. E. Egido, M. Altelaar, C. R. Berkers, R. Masereeuw, M. J. Janssen
The paper shows that ATP6V1B1 deficiency in renal proximal tubule cells causes cystine accumulation and autophagy activation, linking it to cystinosis.
bioRxiv · Jul 24, 2020 · PreprintPharmacology & Toxicology