Lipin enzyme hyperactivity contributes to recessive and dominant TOR1A diseases


  • Surplus lipin enzyme activity plays a role in TOR1A recessive disease and dominantly-inherited childhood-onset dystonia.

Why this matters

    These novel data suggest that therapeutic approaches that suppress phosphatidic acid phosphatase enzyme activity, such as targeting pathways that regulate lipin gene expression, could be beneficial in treating recessive and dominant TOR1A diseases.