Article
Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system.
Biology open - 15 Nov 2024
Noble Alexandra R, Masek Markus, Hofmann Claudia, Cuoco Arianna, Rusterholz Tamara D S, Özkoc Hayriye, Greter Nadja R, Phelps Ian G, Vladimirov Nikita, Kollmorgen Sepp, Stoeckli Esther, Bachmann-Gagescu Ruxandra
Abstract excerpt
Joubert Syndrome (JBTS) is a neurodevelopmental ciliopathy defined by a highly specific midbrain-hindbrain malformation, variably associated with additional neurological features. JBTS displays prominent genetic heterogeneity with >40 causative genes that encode proteins localising to the primary cilium, a sensory organelle that is essential for transduction of signalling pathways during neurodevelopment, among...
Topics
- Animals
- Zebrafish
- Eye Abnormalities
- Retina
- Cerebellum
- Kidney Diseases, Cystic
- Disease Models, Animal
- Mutation
- Abnormalities, Multiple
- Central Nervous System