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Keywords: Spermine
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Journal Articles
Oluwaseun Akinyele, Anushe Munir, Marie A. Johnson, Megan S. Perez, Yuan Gao, Jackson R. Foley, Ashley Nwafor, Yijen Wu, Tracy Murray-Stewart, Robert A. Casero, Jr., Hülya Bayir, Dwi U. Kemaladewi
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050639.
Published: 9 May 2024
... in the SMS gene, which encodes spermine synthase, and aberrant polyamine metabolism. SRS is characterized by intellectual disability, thin habitus, seizure, low muscle tone/hypotonia and osteoporosis. Progress towards understanding and treating SRS requires a model that recapitulates human gene variants...
Includes: Supplementary data
