Author

R. E. N. van der Welle

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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Cell Biology· 1 Pharmacology & Toxicology· 1 Physiology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Assay:metabolomics· 2 Research Focus:cancer & tumor microenvironment· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Research Focus:gene regulatory network inference· 1 Approach:genetic perturbation / CRISPR· 1

Frequent Co-Authors

J. Klumperman· 3 shared C. S. Asensio· 2 shared D. Chitayat· 2 shared T. Veenendaal· 2 shared A. Fasano· 1 shared A. Jamalpoor· 1 shared A. M. Lozano· 1 shared A. Rodriguez· 1 shared

Activity by Year

2019-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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3 shared papersPhysiology

J. Klumperman

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

PhysiologybioRxivApr 25, 2020

Pancreatic beta-cell specific deletion of VPS41 causes diabetes due to defects in insulin secretion

C. H. Burns, B. Yau, A. Rodriguez…·C. S. Asensio

This study shows that VPS41 deletion in pancreatic beta-cells causes diabetes by impairing insulin secretory granule formation and secretion.

DOI 10.2337/db20-0454

mouseexperimental assay

𝕏 PostBluesky

Pharmacology & ToxicologybioRxivPreprintFeb 10, 2020

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

A. Jamalpoor, C. A. van Gelder, F. A. Yousef Yengej…·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.

DOI 10.1101/2020.02.10.941799

zebrafishmetabolomics

𝕏 PostBluesky

Cell BiologybioRxivPreprintDec 18, 2019

VPS41 recessive mutation causes ataxia and dystonia with retinal dystrophy and mental retardation by inhibiting HOPS function and mTORC1 signaling

R. E. N. van der Welle, R. Jobling, C. Burns…·J. Klumperman

This paper identifies VPS41 mutations causing neurodegenerative disease by disrupting HOPS function and mTORC1 signaling, leading to lysosomal dysfunction and impaired autophagy.

DOI 10.1101/2019.12.18.867333

humanproteomics

𝕏 PostBluesky