Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis.

ABSTRACT: Ciliopathies, caused by defective cilia biogenesis or function, comprise a genetically and clinically diverse group of diseases. Primary cilia play pivotal roles in the regulation of a multitude of signalling pathways during development and tissue homeostasis. Cilia assembly, maintenance and signalling depend on intraflagellar transport (IFT). Tubby-like protein 3 (TULP3) functions as an adapter protein for the ciliary trafficking of diverse membrane cargos via an interaction with the IFT-A complex. Recently, we and others have shown that individuals carrying pathogenic TULP3 variants suffer from progressive liver, kidney and heart disease. In line with these findings, adult Tulp3 knockout zebrafish displayed liver fibrosis and kidney cyst phenotypes. In the present study, we analysed the

SUBMITTER: Epting D 

PROVIDER: S-EPMC12432116 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature