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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2017-11-01
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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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