Article
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Orphanet journal of rare diseases - 7 Mar 2015
Albert Jessica S, Bhattacharyya Nisan, Wolfe Lynne A, Bone William P, Maduro Valerie, Accardi John, Adams David R, Schwartz Charles E, Norris Joy, Wood Tim, Gafni Rachel I, Collins Michael T, Tosi Laura L, Markello Thomas C, Gahl William A, Boerkoel Cornelius F
Abstract excerpt
BACKGROUND: Snyder-Robinson Syndrome (SRS) is an X-linked intellectual disability disorder also characterized by osteoporosis, scoliosis, and dysmorphic facial features. It is caused by mutations in SMS, a ubiquitously expressed gene encoding the polyamine biosynthetic enzyme spermine synthase. We hypothesized that the tissue specificity of SRS arises from differential sensitivity to spermidine toxicity or...
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