Functional loss of choline transporter-like protein 1 causes young-onset neurodegenerative disease


  • A new type of childhood-onset neurodegenerative disease is caused by pathogenic mutations in the gene encoding the choline transporter-like protein 1.

Why this matters

    These findings are the first to describe the underlying defective cellular mechanisms in choline transporter-like protein 1 deficiency. Choline treatments could regenerate membrane lipids, restore cellular organelles and protect cells from iron overload in susceptible individuals.

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