Polyamine Homeostasis in Snyder-Robinson Syndrome

Loss-of-function mutations of the spermine synthase gene (SMS) result in Snyder-Robinson Syndrome (SRS), a recessive X-linked syndrome characterized by intellectual disability, osteoporosis, hypotonia, speech abnormalities, kyphoscoliosis, and seizures. As SMS catalyzes the biosynthesis of the polya...

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Detalles Bibliográficos
Autores principales: Murray-Stewart, Tracy, Dunworth, Matthew, Foley, Jackson R., Schwartz, Charles E., Casero, Robert A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318755/
https://www.ncbi.nlm.nih.gov/pubmed/30544565
http://dx.doi.org/10.3390/medsci6040112

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318755/
https://www.ncbi.nlm.nih.gov/pubmed/30544565
http://dx.doi.org/10.3390/medsci6040112

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