Article

Polyamine Homeostasis in Snyder-Robinson Syndrome

2018-11-19

Abstract excerpt

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 polyamine spermine from its precursor spermidine, SMS deficiency causes a lack of spermine with an accumulation of spermid...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1242e821-0535-5e95-ad87-222c9cacd2a6
DOI: 10.20944/preprints201811.0422.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Polyamine Homeostasis in Snyder-Robinson SyndromeDOI 10.20944/preprints201811.0422.v1Read

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

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson SyndromeSemantic proximity Read

Rebalancing polyamine levels to treat Snyder-Robinson syndrome.Semantic proximity Read

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome: mechanism of action and therapeutic potentialSemantic proximity Read

Development and characterization of a Drosophila model of Snyder-Robinson syndrome.Semantic proximity Read

Remaining Mysteries of Molecular Biology: The Role of Polyamines in the CellSemantic proximity Read

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.Semantic proximity Read

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.Semantic proximity Read

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.Semantic proximity Read

Basic Knowledge of Polyamines That Researchers Must Know before Starting Research, and the Relationship of Polyamines to Aging, Health and DiseaseSemantic proximity Read

Targeting polyamine metabolism for cancer therapy and preventionSemantic proximity Read

A perspective of polyamine metabolismSemantic proximity Read