ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death.

ABSTRACT:

Background and aims

Variants in ZFYVE19 underlie a disorder characterised by progressive portal fibrosis, portal hypertension and eventual liver decompensation. We aim to create an animal model to elucidate the pathogenic mechanism.

Methods

Zfyve19 knockout (Zfyve19^-/- ) mice were generated and exposed to different liver toxins. Their livers were characterised at the tissue, cellular and molecular levels. Findings were compared with those in wild-type mice and in ZFYVE19-deficient patients. ZFYVE19 knockout and knockdown retinal pigment epithelial-1 cells and mouse embryonic fibroblasts were generated to study cell division and cell death.

Results

The Zfyve19^-/- mice were normal overall, particularly with respec

SUBMITTER: Yang J 

PROVIDER: S-EPMC11287636 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature