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ea0099p403 | Late-Breaking | ECE2024

LIMK1 variants are associated with divergent endocrinological phenotypes aligning with divergently altered exocytosis dynamics.

Muffels Irena , Carter Theodore , Rehmann Holger , Vastert Bas , Verrijn Stuart Annemarie , Blank Andreas , Garde Aurore , Van Der Zwaag Bert , De Lange Iris , Giltay Jaques , Van Gassen Koen , Koop Klaas , Asensio Cedric , Van Hasselt Peter

Background: LIM kinase 1 (LIMK1) plays a pivotal role in dynamic actin remodeling through phosphorylation of cofilin. In turn, the dynamic remodeling of the actin cytoskeleton is involved in exocytosis, thereby contributing to tuned secretion of hormones and neurotransmitters, although the exact role of actin in these processes is still debated. Results: We report two individuals with de novo variants in LIMK1 with dissimilar clinical phenotypes: one ind...

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Endocrine Abstracts

LIMK1 variants are associated with divergent endocrinological phenotypes aligning with divergently altered exocytosis dynamics.

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