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

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
Source :
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Publication Year :
2017
Publisher :
Nature Portfolio, 2017.

Abstract

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.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
8
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.5308d37db71b41d29e24ce8ca83bcc96
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-017-01289-7