Snyder-Robinson Syndrome Latest Advances

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: May 13, 2021

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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.

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

Development and characterization of a Drosophila model 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.

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

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.

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.

Reduction of spermine synthase enhances autophagy to suppress Tau accumulation.

Reduction of spermine synthase enhances autophagy to suppress Tau accumulation.

Rebalancing polyamine levels to treat Snyder-Robinson syndrome.

Rebalancing polyamine levels to treat Snyder-Robinson syndrome.

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.

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.

Development of a Redox-Sensitive Spermine Prodrug for the Potential Treatment of Snyder Robinson Syndrome.

Development of a Redox-Sensitive Spermine Prodrug for the Potential Treatment of Snyder Robinson Syndrome.

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.

Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta.

Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta.