Polyamine Homeostasis in Snyder-Robinson Syndrome

Polyamine Homeostasis in Snyder-Robinson Syndrome

Loss-of-function mutations of the spermine synthase gene (<i>SMS</i>) 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 biosyn...

Full description

Bibliographic Details
Main Authors: Tracy Murray-Stewart, Matthew Dunworth, Jackson R. Foley, Charles E. Schwartz, Robert A. Casero
Format: Article
Language:English
Published: MDPI AG 2018-12-01
Series:Medical Sciences
Subjects:
Snyder-Robinson Syndrome
spermine synthase
X-linked intellectual disability
polyamine transport
spermidine
spermine
transglutaminase
Online Access:https://www.mdpi.com/2076-3271/6/4/112

Internet

https://www.mdpi.com/2076-3271/6/4/112

Similar Items