Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Mutations in spermine synthase lead to Snyder-Robinson syndrome, a form of intellectual disability syndrome. Here the authors develop a Drosophila model of this disease, and show that lysosomal dysfunction and oxidative stress contribute to the morphological phenotype in these flies, as well as to c...

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Main Authors: Chong Li, Jennifer M. Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V. Malicdan, Hongbo Wang, Luigi Boccuto, Charles E. Schwartz, William A. Gahl, Cornelius F. Boerkoel, R. Grace Zhai
Format: article
Language:EN
Published: Nature Portfolio 2017
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Science
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Online Access:https://doaj.org/article/5308d37db71b41d29e24ce8ca83bcc96
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https://doaj.org/article/5308d37db71b41d29e24ce8ca83bcc96

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