Snyder-Robinson Syndrome Latest Advances

Find the Latest Research About Snyder-Robinson Syndrome

Last Updated: 09/26/2026

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Found 35 publications

Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatment.

Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatment.

Journal: Molecular genetics and metabolism
Published: March 06, 2026

Spermine synthase in Snyder-Robinson syndrome and cancer.

Spermine synthase in Snyder-Robinson syndrome and cancer.

Journal: Molecular biology reports
Published: August 25, 2025

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.

Journal: American journal of medical genetics. Part A
Published: July 31, 2025

Gene replacement therapy to restore polyamine metabolism in a Snyder-Robinson syndrome mouse model.

Gene replacement therapy to restore polyamine metabolism in a Snyder-Robinson syndrome mouse model.

Journal: Methods in enzymology
Published: May 17, 2025

Development and characterization of a Drosophila model of Snyder-Robinson syndrome.

Development and characterization of a Drosophila model of Snyder-Robinson syndrome.

Journal: Methods in enzymology
Published: May 17, 2025

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Journal: Clinical genetics
Published: September 20, 2024

Inactivation of spermine synthase in mice causes osteopenia due to reduced osteoblast activity.

Inactivation of spermine synthase in mice causes osteopenia due to reduced osteoblast activity.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: June 07, 2024

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder-Robinson syndrome.

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder-Robinson syndrome.

Journal: Disease models & mechanisms
Published: November 30, 2023

Reduction of spermine synthase enhances autophagy to suppress Tau accumulation.

Reduction of spermine synthase enhances autophagy to suppress Tau accumulation.

Journal: Cell death & disease
Published: November 13, 2023

Rebalancing polyamine levels to treat Snyder-Robinson syndrome.

Rebalancing polyamine levels to treat Snyder-Robinson syndrome.

Journal: EMBO molecular medicine
Published: September 01, 2023

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.

Journal: EMBO molecular medicine
Published: April 10, 2023

Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells.

Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells.

Journal: JCI insight
Published: January 12, 2022
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Last Updated: 09/26/2026