A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface

Mutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, a lysosomal storage disorder characterized by childhood-onset vision loss, neurological impairment, and premature death. However, how CLN3 mutations cause photoreceptor cell death is not known. Here, we show that CLN3 is required for...

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Bibliografiske detaljer
Udgivet i:Commun Biol
Main Authors: Tang, Cynthia, Han, Jimin, Dalvi, Sonal, Manian, Kannan, Winschel, Lauren, Volland, Stefanie, Soto, Celia A., Galloway, Chad A., Spencer, Whitney, Roll, Michael, Milliner, Caroline, Bonilha, Vera L., Johnson, Tyler B., Latchney, Lisa, Weimer, Jill M., Augustine, Erika F., Mink, Jonathan W., Gullapalli, Vamsi K., Chung, Mina, Williams, David S., Singh, Ruchira
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7864947/
https://ncbi.nlm.nih.gov/pubmed/33547385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s42003-021-01682-5
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