Article

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells

2025-11-28

Abstract excerpt

Pathological USH2A mutations cause Usher Syndrome type II, characterized by progres-sive retinitis pigmentosa and hearing and balance impairment. This study aims to inves-tigate the cellular mechanisms underlying USH2A-related retinal degeneration using hu-man induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of a homozygous nonsense mutation in the USH2A hotspot exon-13 resulted in...

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Literature Corpus work: defb42a3-aa17-5a7b-bec6-749a5b3ea8d6
DOI: 10.20944/preprints202511.2315.v1

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