Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.

Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.

Chediak-Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement of lysosomes and lysosome-related organelles. Althoug...

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Bibliographic Details
Main Authors: Xiaojie Ji, Lihong Zhao, Ankita Umapathy, Bernard Fitzmaurice, Jieping Wang, David S Williams, Bo Chang, Jürgen K Naggert, Patsy M Nishina
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2022-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0254469&type=printable
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