Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder–Robinson syndrome

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder–Robinson syndrome

Abstract Snyder–Robinson syndrome (SRS) results from mutations in spermine synthase (SMS), which converts the polyamine spermidine into spermine. Affecting primarily males, common manifestations of SRS include intellectual disability, osteoporosis, hypotonia, and seizures. Symptom management is the...

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Bibliographic Details
Main Authors: Tracy Murray Stewart, Jackson R Foley, Cassandra E Holbert, Maxim Khomutov, Noushin Rastkari, Xianzun Tao, Alex R Khomutov, R Grace Zhai, Robert A Casero
Format: Article
Language:English
Published: Springer Nature 2023-09-01
Series:EMBO Molecular Medicine
Subjects:
alpha‐methylated polyamine analogue
eflornithine
S‐adenosylmethionine decarboxylase
spermidine
spermine synthase
Online Access:https://doi.org/10.15252/emmm.202317833
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https://doi.org/10.15252/emmm.202317833

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