Article

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy

2026-07-07

Abstract excerpt

<title>Abstract</title> <p>Inherited retinal diseases (IRDs) encompass a broad spectrum of genetic conditions leading to visual impairment. In this study, we identify KATNA1, encoding the catalytic p60 subunit of the microtubule-severing enzyme katanin, as a previously unrecognized cause of autosomal dominant macular dystrophy (adMD), a form of IRD. Specifically, we could ascertain the presence of 10 heterozygous...

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Literature Corpus work: 2a0a16ed-bf72-5ef8-a24a-df00c7a91569
DOI: 10.21203/rs.3.rs-8880283/v1

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