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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Detalles Bibliográficos
Autores principales: Ji, Xiaojie, Zhao, Lihong, Umapathy, Ankita, Fitzmaurice, Bernard, Wang, Jieping, Williams, David S., Chang, Bo, Naggert, Jürgen K., Nishina, Patsy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893605/
https://www.ncbi.nlm.nih.gov/pubmed/35239671
http://dx.doi.org/10.1371/journal.pone.0254469

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893605/
https://www.ncbi.nlm.nih.gov/pubmed/35239671
http://dx.doi.org/10.1371/journal.pone.0254469

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