Genetic and chemical genetic analysis pinpoint defective epithelial cells as the driver for NPHP like phenotypes in Invs mutants, demonstrate genetic interaction between Invs and Ift88 and identify the HDAC inhibitor valproic acid as a suppressor for Invs mutant phenotypes.
Hanh Thi-Kim Vu, Jochen C Rink ... Alejandro Sánchez Alvarado
Planarians provide evidence for a common evolutionary origin of vertebrate and invertebrate excretory systems and provide a novel experimental model to study human kidney diseases.
Theoretical analysis of the current literature reveals the structural assembly, transport regulation, and molecular functions of the BBSome, emphasizing its roles in cilium-related processes.
Jean-André Lapart, Marco Gottardo ... Bénédicte Durand
Genetic analyses in Drosophila establish the functional hierarchy of the ciliary transition zone module, Dzip1/Fam92/Cby, and reveal tissue specific variations in basal body anchoring pathways in fly ciliated tissues.
Dhivya Kumar, Daniela Strenkert ... Betty A Eipper
Analysis of Chlamydomonas, planaria and mice reveals a novel and unanticipated role for a peptide amidating enzyme in primary and motile ciliary assembly through effects on post-Golgi trafficking.
High-throughput screening of over 6000 drugs using cells and retina tissue with a CEP290 ciliopathy mutation identified a small molecule, reserpine, which enhanced photoreceptor survival in retinal organoids and in a mouse disease model by partially restoring balance in proteostasis.