Snyder-Robinson Syndrome

Snyder-Robinson Syndrome (SRS) is a rare genetic condition which affects only males. SRS is an X-linked syndrome which is caused by malfunctioning of an enzyme, the spermine synthase (SMS). SRS is characterized by intellectual disability, muscle and bone abnormalities, developmental delays, and sometimes other medical problems.

June 9, 2016
Open Access

Functions of Polyamines in Mammals

The Journal of Biological Chemistry
Anthony E Pegg
February 15, 2011

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

Methods in Molecular Biology
Charles E SchwartzAnthony E Pegg
July 16, 2015
Open Access

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

Journal of Inherited Metabolic Disease
Lucia AbelaBarbara Plecko
July 31, 2013
Case Report

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

American Journal of Medical Genetics. Part a
Angela PeronMassimo Mastrangelo
October 4, 2019

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome

European Journal of Medical Genetics
Lise LarcherSandra Whalen
June 18, 2010
Open Access

Computational analysis of missense mutations causing Snyder-Robinson syndrome

Human Mutation
Zhe ZhangEmil Alexov
October 19, 2010
Open Access

Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine

The Biochemical Journal
Anthony E PeggD E McCloskey
January 8, 2014
Open Access

The function of spermine

Anthony E Pegg
May 23, 2013
Case Report
Open Access

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome

Human Molecular Genetics
Zhe ZhangHilde Van Esch
January 14, 2016
Open Access

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase

International Journal of Molecular Sciences
Yunhui PengEmil Alexov
October 28, 2009

Spermine synthase

Cellular and Molecular Life Sciences : CMLS
Anthony E Pegg, Anthony J Michael
April 19, 2015

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

Orphanet Journal of Rare Diseases
Jessica S AlbertCornelius F Boerkoel
October 21, 2009
Case Report

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

American Journal of Medical Genetics. Part a
Christèle du SouichCornelius F Boerkoel
March 8, 2013

Enhancing human spermine synthase activity by engineered mutations

PLoS Computational Biology
Zhe ZhangEmil Alexov
January 24, 2006

Aminopropyltransferases: function, structure and genetics

Journal of Biochemistry
Yoshihiko IkeguchiAnthony E Pegg
September 26, 2003
Open Access

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

European Journal of Human Genetics : EJHG
A Lauren CasonCharles E Schwartz
February 12, 2009
Open Access

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome

American Journal of Medical Genetics. Part a
L E Becerra-SolanoJ E García-Ortiz

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