Author

Lambertus P. van den Heuvel

Radboud University Medical CenterORCID 0000-0003-3917-6727Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Assay:multiome· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Bastiaan de PotteriD· 1 shared Bianca Maria GoffredoiD· 1 shared Charlotte I. de BieiD· 1 shared Elena N. LevtchenkoiD· 1 shared Elena Sendino GarvíiD· 1 shared Elianne P. BulthuisiD· 1 shared Erik‐Jan KamsteegiD· 1 shared Fanny Oliveira ArcolinoiD· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Bastiaan de PotterORCID

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2 papers

Recent·Most cited

GeneticsScientific ReportsPeer-reviewedNov 28, 2023

CTNS mRNA as a potential treatment for nephropathic cystinosis

Tjessa Bondue, Sante Princiero Berlingerio, Florian Siegerist…·Elena N. Levtchenko

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

14 citations

zebrafishhuman

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GeneticsBiochimica et Biophysica Acta (BBA) - Molecular Basis of DiseasePeer-reviewedJul 16, 2023

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

Elianne P. Bulthuis, Merel J.W. Adjobo-Hermans, Bastiaan de Potter…·Richard J. Rodenburg

This paper identifies SMDT1 variants that cause EMRE protein absence and impair mitochondrial calcium uptake in patients with muscle involvement.

10 citations

humanproteomics

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