Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders
James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Amelia Naik, Chelsea Bender, Nia Moore, Laryssa A. Huryn, Yuri V. Sergeev, Haohua Qian, Yong Zeng, Lijin Dong, Pinghu Liu, Jingqi Lei, , 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.
bioRxiv · Jun 9, 2023 · PreprintNeuroscience