Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).

Charles E. Schwartz, Xaiojing Wang, Roger E. Stevenson, Anthony Pegg

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

Polyamines, small positively charged molecules, are vital for cell proliferation and differentiation. They are found ubiquitously in eukaryotic cells. Additionally, they interact with a wide range of other molecules and some membrane associated receptors. Polyamines, spermidine and spermine, are synthesized by two aminopropyltransferases, spermidine synthase and spermine synthase. Recently, mutations in the latter enzyme have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome. Spermine synthase deficiency is thus far the only known polyamine deficiency syndrome in humans.

Original languageEnglish (US)
Pages (from-to)437-445
Number of pages9
JournalMethods in molecular biology (Clifton, N.J.)
Volume720
DOIs
StatePublished - May 25 2011

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics

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