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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/5308d37db71b41d29e24ce8ca83bcc96
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spelling	oai:doaj.org-article:5308d37db71b41d29e24ce8ca83bcc962021-12-02T14:42:18ZSpermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome10.1038/s41467-017-01289-72041-1723https://doaj.org/article/5308d37db71b41d29e24ce8ca83bcc962017-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-01289-7https://doaj.org/toc/2041-1723Mutations 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 cellular deficits in cells derived from patients.Chong LiJennifer M. BrazillSha LiuChristofer BelloYi ZhuMarie MorimotoLauren CascioRini PaulyZoraida Diaz-PerezMay Christine V. MalicdanHongbo WangLuigi BoccutoCharles E. SchwartzWilliam A. GahlCornelius F. BoerkoelR. Grace ZhaiNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
description	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 cellular deficits in cells derived from patients.
format	article
author	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
author_facet	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
author_sort	Chong Li
title	Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
title_short	Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
title_full	Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
title_fullStr	Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
title_full_unstemmed	Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
title_sort	spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of snyder-robinson syndrome
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/5308d37db71b41d29e24ce8ca83bcc96
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Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

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