NeurosciencebioRxivPreprint
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders
James Liu, Yi He, Cara Lwin…·Robert B. Hufnagel
The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.