Article

Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system

2024-02-15

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 ot...

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Literature Corpus work: 4304f23f-d8f7-5f4b-b91f-e7132a714202
DOI: 10.1101/2024.02.15.580456

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