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Article

Hyperactive microtubule binding of RP1L1 R45W underlies retinal degeneration and is suppressed by glycerol.

Journal of cell science - 1 Feb 2026

Ye Yuqi, Guo Zhengyang, Li Wei, Xu Kaiming, Ou Guangshuo

Abstract excerpt

Photoreceptors rely on microtubule (MT)-based transport within the connecting cilium to maintain cellular homeostasis. Mutations in RP1L1, a retina-specific doublecortin (DC) domain protein, cause inherited retinal disorders including occult macular dystrophy (OMD), yet the underlying mechanisms remain poorly defined. Here, we show that the RP1L1 R45W variant, prevalent in East Asian individuals with OMD, confers...

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Eye Proteins
Glycerol
Microtubule-Associated Proteins
Microtubules
Molecular Dynamics Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Binding

Retinal Degeneration

Source

Identifiers

PMID: 41555797
DOI: 10.1242/jcs.264447

Genes

RP1L1
OMD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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