Open access
Jul 2026
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy
KATNA1 is established as a novel gene associated with adMD, possibly accounting for ~4% of all unresolved MD cases, and associate defective microtubule severing and cytoskeletal dysregulation with macular degeneration.
Carlo Rivolta, Karolina Kaminska, Abigail R. Moye et al.
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