Research map: An improved SMS p.Gly56Ser mouse model of Snyder-Robinson syndrome reveals phenotypic parallels with clinical features

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  1. Age-related changes in behavior in C57BL/6J mice from young adulthood to middle age · Hirotaka Shoji · 2016 · 486 citations · Cited by this paper
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  5. Solid-phase extraction and determination of dansyl derivatives of unconjugated and acetylated polyamines by reversed-phase liquid chromatography: Improved separation systems for polyamines in cerebrospinal fluid, urine and tissue · Pokar M. Kabra · 1986 · 268 citations · Cited by this paper
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  13. Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome · Chong Li · 2017 · 105 citations · Cited by this paper
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  15. Spermine Synthesis Is Required for Normal Viability, Growth, and Fertility in the Mouse · Xiaojing Wang · 2004 · 89 citations · Cited by this paper
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  17. Recessive Sex-Linked Mental Retardation in the Absence of Other Recognizable Abnormalities · Russell D. Snyder · 1969 · 88 citations · Cited by this paper
  18. Polyamines and potassium channels: A 25-year romance · Colin G. Nichols · 2018 · 86 citations · Cited by this paper
  19. Polyamines and Their Metabolism: From the Maintenance of Physiological Homeostasis to the Mediation of Disease · Kamyar A. Zahedi · 2022 · 80 citations · Cited by this paper
  20. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome · Gustavo de Alencastro · 2008 · 77 citations · Cited by this paper
  21. A missense mutation, p.V132G, in the X‐linked spermine synthase gene (SMS) causes Snyder–Robinson syndrome · Luis Eduardo Becerra-Solano · 2009 · 71 citations · Cited by this paper
  22. Effect of spermine synthase deficiency on polyamine biosynthesis and content in mice and embryonic fibroblasts, and the sensitivity of fibroblasts to 1,3-bis-(2-chloroethyl)-N-nitrosourea · Caroline A. MACKINTOSH · 2000 · 56 citations · Cited by this paper
  23. Polyamine Homeostasis in Snyder-Robinson Syndrome · Tracy Murray Stewart · 2018 · 42 citations · Cited by this paper
  24. Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype · Angela Peron · 2013 · 41 citations · Cited by this paper
  25. Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome · Jessica S. Albert · 2015 · 40 citations · Cited by this paper
  26. A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome · Zhe Zhang · 2013 · 40 citations · Cited by this paper
  27. Spermine Synthase Deficiency Resulting in X-Linked Intellectual Disability (Snyder–Robinson Syndrome) · Charles E. Schwartz · 2011 · 38 citations · Cited by this paper
  28. The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome · Lise Larcher · 2019 · 33 citations · Cited by this paper
  29. Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder–Robinson syndrome · Tracy Murray Stewart · 2023 · 23 citations · Cited by this paper
  30. Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder–Robinson syndrome · Oluwaseun Akinyele · 2024 · 23 citations · Cited by this paper
  31. Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome · Talal Jamil Qazi · 2020 · 22 citations · Cited by this paper
  32. Polyamines mediate cellular energetics and lipid metabolism through mitochondrial respiration to facilitate virus replication · Yazmin E. Cruz-Pulido · 2024 · 16 citations · Cited by this paper
  33. (R,R)-1,12-Dimethylspermine can mitigate abnormal spermidine accumulation in Snyder–Robinson syndrome · Tracy Murray Stewart · 2020 · 14 citations · Cited by this paper
  34. Oral Supplementation with the Polyamine Spermidine Affects Hepatic but Not Pulmonary Lipid Metabolism in Lean but Not Obese Mice · Sophia Pankoke · 2022 · 11 citations · Cited by this paper
  35. Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant · Megumi Leung · 2023 · 9 citations · Cited by this paper
  36. Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype · Pauline Dontaine · 2020 · 8 citations · Cited by this paper
  37. An enhanced method for the determination of polyamine content in biological samples by dansyl chloride derivatization and HPLC · Ashley C. Nwafor · 2025 · 6 citations · Cited by this paper
  38. Use of (Gyro) Gy and Spermine Synthase Transgenic Mice to Study Functions of Spermine · Xiaojing Wang · 2011 · 4 citations · Cited by this paper
  39. Bone manifestations in Snyder‐Robinson syndrome · Teri L. Koerner · 2024 · 4 citations · Cited by this paper

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