transporter

Gene mutations impair gut barrier

Mutations in a cell membrane transporter protein impair the integrity of the gut lining, contributing to chronic gastrointestinal distress for people with the mutations, Vanderbilt researchers report.

Gene tied to childhood epilepsy

Data drawn from four unrelated patients with a childhood epilepsy syndrome — and from in vitro and in vivo studies — link novel variants in a GABA transporter gene to seizure activity, Vanderbilt researchers reported.

Transporter’s role in gut barrier

A disease-associated mutation in a transporter protein impairs gut barrier function, leading to gastrointestinal disease and chronic infections.

Transporter mutation alters cell energy

A disease-associated mutation in a transporter protein causes cells to increase energy production, as if they are starving, Vanderbilt researchers have discovered.

Brain image

Blueprint for treating epilepsy

Structural details of a protein that is essential to normal brain function could improve treatments for epilepsy and other seizure disorders.

Defective transporter linked to autism

A first-of-its-kind mouse model may help reveal mechanistic underpinnings for the altered behaviors of autism spectrum disorder.

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