Blacque, Oliver E.

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

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., et al. (2011) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 194

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., et al. (2017) · Journal of Medical Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 115

Endosome maturation factors Rabenosyn‐5/VPS45 and caveolin‐1 regulate ciliary membrane and polycystin‐2 homeostasis

Scheidel, N., Kennedy, J., & Blacque, O. E. (2018) · The EMBO Journal

Genetic and Kidney Cyst DiseasesCellular transport and secretion

Cited by 38

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Chrystal, P. W., Lambacher, N. J., Doucette, L. P., Bellingham, J., Schiff, E. R., Noel, N. C. L., Li, C., Tsiropoulou, S., Casey, G. A., Zhai, Y., et al. (2022) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 31

PACRG, a protein linked to ciliary motility, mediates cellular signaling

Loucks, C. M., Bialas, N. J., Dekkers, M. P. J., Walker, D. S., Grundy, L. J., Li, C., Inglis, P. N., Kida, K., Schafer, W. R., Blacque, O. E., et al. (2016) · Molecular Biology of the Cell

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 23

EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling

Loucks, C. M., Park, K., Walker, D. S., McEwan, A. H., Timbers, T. A., Ardiel, E. L., Grundy, L. J., Li, C., Johnson, J.-L., Kennedy, J., et al. (2019) · eLife

Genetic and Kidney Cyst DiseasesEpilepsy research and treatment

Cited by 18