Ubap1l Knockout Mice Model Recapitulates Retinal Degeneration Phenotype Observed in Patients and Exhibits Irregular Photoreceptor Morphology.

ABSTRACT:

Purpose

UBAP1L is a newly discovered gene related to recessive inherited retinal degeneration (IRD) with an unknown pathogenic mechanism. This study aims to investigate whether biallelic pathogenic variants in UBAP1L contribute to the unsolved cases in Chinese IRD families and to explore the impact of the Ubap1l genetic defect in a mouse model.

Methods

Next-generation sequencing was used to detect variants in families with unknown pathogenic variants. Biallelic variants in UBAP1L, evaluated through multistep bioinformatic analysis, comparison across multiple databases, and related phenotype analysis based on thoroughly reviewed clinical data, were confirmed by Sanger sequencing and cosegregation analysis. The expression profiles of UBAP1L in human and Ubap1l in mouse were de

SUBMITTER: Wang Y 

PROVIDER: S-EPMC12704213 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature