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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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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 |
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