Publication: Multisystem involvement, defective lysosomes, and impaired autophagy in a novel rat model of Nephropathic Cystinosis
Multisystem involvement, defective lysosomes, and impaired autophagy in a novel rat model of Nephropathic Cystinosis
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Krohn, P., Rega, L. R., Harvent, M., Festa, B. P., Taranta, A., Luciani, A., Dewulf, J., Cremonesi, A., Camassei, F. D., Hanson, J. V. M., Gerth-Kahlert, C., Emma, F., Berquez, M., & Devuyst, O. (2022). Multisystem involvement, defective lysosomes, and impaired autophagy in a novel rat model of Nephropathic Cystinosis. Human Molecular Genetics, 31(13), 2262–2278. https://doi.org/10.1093/hmg/ddac033
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Recessive mutations in the CTNS gene encoding the lysosomal transporter cystinosin cause cystinosis, a lysosomal storage disease leading to kidney failure and multisystem manifestations. A Ctns knock-out mouse model recapitulates features of cystinosis, but the delayed onset of kidney manifestations, phenotype variability, and strain effects limit its use for mechanistic and drug development studies. To provide a better model for cystinosis, we generated a Ctns knock-out rat model using CRISPR/Cas9 technology. The Ctns-/- rats display
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Krohn, P., Rega, L. R., Harvent, M., Festa, B. P., Taranta, A., Luciani, A., Dewulf, J., Cremonesi, A., Camassei, F. D., Hanson, J. V. M., Gerth-Kahlert, C., Emma, F., Berquez, M., & Devuyst, O. (2022). Multisystem involvement, defective lysosomes, and impaired autophagy in a novel rat model of Nephropathic Cystinosis. Human Molecular Genetics, 31(13), 2262–2278. https://doi.org/10.1093/hmg/ddac033
