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:	English
Published:	Nature Publishing Group 2017-11-01
Series:	Nature Communications
Online Access:	https://doi.org/10.1038/s41467-017-01289-7

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spelling	doaj-5308d37db71b41d29e24ce8ca83bcc962021-05-11T07:18:43ZengNature Publishing GroupNature Communications2041-17232017-11-018111510.1038/s41467-017-01289-7Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndromeChong Li0Jennifer M. Brazill1Sha Liu2Christofer Bello3Yi Zhu4Marie Morimoto5Lauren Cascio6Rini Pauly7Zoraida Diaz-Perez8May Christine V. Malicdan9Hongbo Wang10Luigi Boccuto11Charles E. Schwartz12William A. Gahl13Cornelius F. Boerkoel14R. Grace Zhai15Department of Molecular and Cellular Pharmacology, University of Miami Miller School of MedicineDepartment of Molecular and Cellular Pharmacology, University of Miami Miller School of MedicineSchool of Pharmacy, Key Laboratory of Molecular Pharmacology and Drug Evaluation (Yantai University), Ministry of Education, Collaborative Innovation Center of Advanced Drug Delivery System and Biotech Drugs in Universities of Shandong, Yantai UniversityDepartment of Molecular and Cellular Pharmacology, University of Miami Miller School of MedicineDepartment of Molecular and Cellular Pharmacology, University of Miami Miller School of MedicineNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIHJC Self Research Institute, Greenwood Genetic CenterJC Self Research Institute, Greenwood Genetic CenterDepartment of Molecular and Cellular Pharmacology, University of Miami Miller School of MedicineNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIHSchool of Pharmacy, Key Laboratory of Molecular Pharmacology and Drug Evaluation (Yantai University), Ministry of Education, Collaborative Innovation Center of Advanced Drug Delivery System and Biotech Drugs in Universities of Shandong, Yantai UniversityJC Self Research Institute, Greenwood Genetic CenterJC Self Research Institute, Greenwood Genetic CenterNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIHNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIHDepartment of Molecular and Cellular Pharmacology, University of Miami Miller School of MedicineMutations 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.https://doi.org/10.1038/s41467-017-01289-7
collection	DOAJ
language	English
format	Article
sources	DOAJ
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
spellingShingle	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 Nature Communications
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 Publishing Group
series	Nature Communications
issn	2041-1723
publishDate	2017-11-01
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.
url	https://doi.org/10.1038/s41467-017-01289-7
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Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

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