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Article

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Clinical genetics - 1 Jan 2026

Marinakis Nikolaos M, Kampouraki Afrodite, Veltra Danai, Tilemis Faidon-Nikolaos, Vasilopoulou Maria, Dokou Aikaterini, Georgiadou Elissavet, Karavergou Euthalia, Christolouka Maria, Alexopoulos Alexis, Kirillidi Dimitra, Goudesidou Maria, Kosma Konstantina, Sofocleous Christalena, Makrythanasis Periklis

Abstract excerpt

WDR91, a WD40 repeat domain-containing protein, is a key regulator of endosomal trafficking, lysosomal function, and autophagy. It acts as a Rab7 effector, forming a complex with WDR81 to modulate phosphatidylinositol 3-kinase (PI3K) activity, endosomal maturation, and lysosome homeostasis. Loss-of-function variants in WDR91 are considered related to endosomal accumulation, impaired cargo degradation, and...

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Identifiers

PMID: 40550703
DOI: 10.1111/cge.70012
PMCID: PMC12674976

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