Author

M. J. Janssen

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Pharmacology & Toxicology· 2 Bioengineering· 1 Cell Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 3 Research Focus:differential expression· 3 Organism:human· 3 Research Focus:drug response / drug discovery· 2 Approach:experimental assay· 2 Approach:genetic perturbation / CRISPR· 2 Assay:metabolomics· 2 Research Focus:cell signaling & trafficking· 1

Frequent Co-Authors

R. Masereeuw· 4 shared A. Jamalpoor· 3 shared E. A. Zaal· 3 shared C. A. van Gelder· 2 shared C. Pou Casellas· 2 shared C. R. Berkers· 2 shared E. Sendino Garvi· 2 shared M. Altelaar· 2 shared

Activity by Year

2020-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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4 shared papersPharmacology & Toxicology

R. Masereeuw

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

A novel KCNJ16 kidney organoid model recapitulates the disease phenotype and shows restoration of lipid accumulation upon treatment with statins

E. Sendino Garvi, G. van der Slobbe, E. A. Zaal, J. H. F. de Baaij, J. Hoenderop, R. Masereeuw, M. J. Janssen, A. M. van Genderen

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

bioRxiv · Dec 22, 2023 · PreprintCell Biology

Gene surgery as a potential treatment option for Nephropathic Cystinosis in vitro

E. Sendino Garvi, J. Faria, C. Pou Casellas, S. Thijssen, E. J. Wubbolts, A. Jamalpoor, P. Harrison, R. Masereeuw, M. J. Janssen

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

bioRxiv · Nov 1, 2023 · PreprintBioengineering

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

Cysteamine-bicalutamide combination treatment restores alpha-ketoglutarate and corrects proximal tubule phenotype in cystinosis

A. Jamalpoor, C. A. van Gelder, F. A. Yousef Yengej, E. A. Zaal, S. P. Berlingerio, K. R. Veys, C. Pou Casellas, K. Voskuil, K. Essa, C. M. Ammerlaan, L. R. Rega, R. E. N. van der Welle, M. R. Lilien, M. B. Rookmaaker, H. Clevers, , M. J. Janssen

This study identifies alpha-ketoglutarate as a key metabolite in cystinosis and shows that combining cysteamine with bicalutamide corrects proximal tubule defects in cell models and zebrafish.

bioRxiv · Feb 10, 2020 · PreprintPharmacology & Toxicology