Publications by authors named "S E C van Beersum"
Article Synopsis
- The study focuses on understanding the regulation of the primary cilium, an important cellular organelle, specifically through post-translational modifications like ubiquitination.
- Using multi-proteomics techniques in different mammalian cell lines, researchers identified key proteins linked to ciliary signaling, remodeling, and trafficking.
- Notably, findings revealed that ESCRT-dependent clathrin-mediated endocytosis is crucial for ciliary function in one cell line, while structural components of caveolae influence ciliary length in another, highlighting distinct regulatory mechanisms.
Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice. In this study, we purified the prenylated cargo of PDE6D by affinity proteomics to gain insight into PDE6D-associated disease mechanisms. By this approach, we have identified a specific set of PDE6D-interacting proteins that are involved in photoreceptor integrity, GTPase activity, nuclear import, or ubiquitination.
View Article and Find Full Text PDFJoubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. Here, we used the recently identified JBTS-associated protein armadillo repeat motif-containing 9 (ARMC9) in tandem-affinity purification and yeast 2-hybrid screens to identify a ciliary module whose dysfunction underlies JBTS.
View Article and Find Full Text PDFThe outer segments (OS) of rod and cone photoreceptor cells are specialized sensory cilia that contain hundreds of opsin-loaded stacked membrane disks that enable phototransduction. The biogenesis of these disks is initiated at the OS base, but the driving force has been debated. Here, we studied the function of the protein encoded by the photoreceptor-specific gene , which is mutated in inherited retinal dystrophy (RP54).
View Article and Find Full Text PDFArticle Synopsis
- The study focuses on the cilium, a crucial part of mammalian cells, and explores how its dysfunction leads to ciliopathies, a group of genetic diseases.
- Researchers utilized various data types and advanced statistical methods to identify 285 potential ciliary genes and confirmed ciliary functions for 24 of them through experiments in different model organisms like mice and zebrafish.
- The findings have led to the creation of CiliaCarta, a comprehensive database of 956 ciliary genes, which can help prioritize genetic testing for patients with ciliopathy disorders.