Protein truncating mutations in ATP13A3 promote pulmonary arterial hypertension

Conclusions: Our initial findings provide further evidence that loss of function mutations in ATP13A3 are directly involved in causation of PAH and the mechanism involves alterations in cellular polyamine levels.

Source: European Respiratory Journal - October 28, 2020 Category: Respiratory Medicine Authors: Legchenko, E., Liu, B., West, J., Vangheluwe, P., Upton, P., Morrell, N. Tags: Pulmonary hypertension Source Type: research