{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T22:25:38Z","timestamp":1790115938788,"version":"4.0.1"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:00:00Z","timestamp":1694736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:00:00Z","timestamp":1694736000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["EMBO Mol Med"],"published-print":{"date-parts":[[2023,11,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Snyder\u2013Robinson syndrome (SRS) is a rare genetic disorder characterized by\u00a0intellectual disability and delayed development beginning early in childhood. It was first described in a single family in 1969 as a sex\u2010linked disorder (Snyder &amp; Robinson,\u00a01969) and has since been only identified in less than 100 individuals worldwide. Inherited in an X\u2010linked recessive pattern, SRS has only been identified in males thus far. Snyder\u2013Robinson syndrome primarily affects the nervous system and skeletal tissues and is caused by loss\u2010of\u2010function mutations in the gene encoding spermine synthase (SMS), a polyamine biosynthesis enzyme. Affected males display a collection of clinical features including intellectual disability ranging from mild to profound, speech and vision impairment, osteoporosis, hypotonia, and increasing loss of muscle tissue with age, kyphoscoliosis, seizures, and distinctive facial features including a prominent lower lip and facial asymmetry. Currently, there is no cure or treatment for this debilitating disorder aside from symptom management.<\/jats:p>","DOI":"10.15252\/emmm.202318506","type":"journal-article","created":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:27:24Z","timestamp":1694755644000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Rebalancing polyamine levels to treat Snyder\u2013Robinson syndrome"],"prefix":"10.1038","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6228-860X","authenticated-orcid":false,"given":"Susan K","family":"Gilmour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,9,15]]},"reference":[{"key":"BFEMMM202318506_CR1","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/s41568-022-00473-2","volume":"22","author":"CE Holbert","year":"2022","unstructured":"Holbert CE, Cullen MT, Casero RA Jr, Stewart TM (2022) Polyamines in cancer: integrating organismal metabolism and antitumour immunity. 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Nat Commun 8: 1257","journal-title":"Nat Commun"},{"key":"BFEMMM202318506_CR4","doi-asserted-by":"crossref","first-page":"14904","DOI":"10.1074\/jbc.R116.731661","volume":"291","author":"AE Pegg","year":"2016","unstructured":"Pegg AE (2016) Functions of polyamines in mammals. J Biol Chem 291: 14904\u201314912","journal-title":"J Biol Chem"},{"key":"BFEMMM202318506_CR5","doi-asserted-by":"crossref","DOI":"10.3390\/genes12040470","volume":"12","author":"JW Prokop","year":"2021","unstructured":"Prokop JW, Bupp CP, Frisch A, Bilinovich SM, Campbell DB, Vogt D, Schultz CR, Uhl KL, VanSickle E, Rajasekaran S et\u00a0al (2021) Emerging role of ODC1 in neurodevelopmental disorders and brain development. Genes 12: 470","journal-title":"Genes"},{"key":"BFEMMM202318506_CR6","volume":"9","author":"NA Sagar","year":"2021","unstructured":"Sagar NA, Tarafdar S, Agarwal S, Tarafdar A, Sharma S (2021) Polyamines: functions, metabolism, and role in human disease management. 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