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

Polyamines are tightly regulated polycations that are essential for life. Loss-of-function mutations in spermine synthase (SMS), a polyamine biosynthesis enzyme, cause Snyder-Robinson syndrome (SRS), an X-linked intellectual disability syndrome; however, little is known about the neuropathogenesis o...

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Publicado no:Nat Commun
Main Authors: Li, Chong, Brazill, Jennifer M., Liu, Sha, Bello, Christofer, Zhu, Yi, Morimoto, Marie, Cascio, Lauren, Pauly, Rini, Diaz-Perez, Zoraida, Malicdan, May Christine V., Wang, Hongbo, Boccuto, Luigi, Schwartz, Charles E., Gahl, William A., Boerkoel, Cornelius F., Zhai, R. Grace
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5668419/
https://ncbi.nlm.nih.gov/pubmed/29097652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-01289-7
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