Letteboer, Stef J.F.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Hjeij, R., Onoufriadis, A., Watson, C. M., Slagle, C. E., Klena, N. T., Dougherty, G. W., Kurkowiak, M., Loges, N. T., Diggle, C. P., Morante, N. F. C., et al. (2014) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 174

Hdmx protein stability is regulated by the ubiquitin ligase activity of Mdm2

de Graaf, P., Little, N. A., Ramos, Y. F. M., Meulmeester, E., Letteboer, S. J. F., & Jochemsen, A. G. (2003) · Journal of Biological Chemistry

Cancer-related Molecular PathwaysUbiquitin and proteasome pathways

Cited by 143

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Dougherty, G. W., Mizuno, K., Nöthe-Menchen, T., Ikawa, Y., Boldt, K., Ta-Shma, A., Aprea, I., Minegishi, K., Pang, Y.-P., Pennekamp, P., et al. (2020) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 88

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., et al. (2020) · Journal of Clinical Investigation

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 76

Deciphering the Impact of PROM1 Alternative Splicing on Human Photoreceptor Development and Maturation

Lako, M., Molina, M. M., Dorgau, B., Flood, E., Letteboer, S., Lorentzen, E., Coxhead, J., Smith, G., Roepman, R., Nagaraja-Grellscheid, S., et al. (2024) · Cell Death and Disease

Retinal Development and DisordersRNA Research and Splicing

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