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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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864947/
https://www.ncbi.nlm.nih.gov/pubmed/33547385
http://dx.doi.org/10.1038/s42003-021-01682-5