ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport.
Bin LiuMujahid AzfarEkaterina LegchenkoJames A WestShaun MartinChris Van den HauteVeerle BaekelandtJohn WhartonLuke HowardMartin R WilkinsPeter VangheluweNicholas W MorrellPaul D UptonPublished in: Cardiovascular research (2024)
We identify ATP13A3 as a polyamine transporter controlling polyamine homeostasis in ECs, a deficiency of which leads to EC dysfunction and predisposes to PAH. This suggests a need for targeted therapies to alleviate the imbalances in polyamine homeostasis and EC dysfunction in PAH.