A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype

Abstract Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder caused by pathogenic variants in the lysosomal trafficking regulator (LYST) gene and characterized by significant immunological and neurological impairment. Current mouse models do not replicate the early-onset neurologi...

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Main Authors: Sunny Greene, Mackenzie L. Talbert, F. Graeme Frost, Patricia M. Zerfas, Danielle Springer, Audrey Noguchi, Marie Morimoto, Dawn Maynard, Lisa Garrett, Gene Elliot, Maria Traver, David Yarnell, Petcharat Leoyklang, John D. Burke, Elena-Raluca Nicoli, William A. Gahl, Wendy J. Introne, May Christine V. Malicdan
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-025-08482-1
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