Wallach, I; Bernard, D; Nguyen, K; Ho, G; Morrison, A; Stecula, A; Rosnik, A; O’Sullivan, AM; Davtyan, A; Samudio, B; Lam, A; Cuddihy, AR; White, A; Taglialatela, A. AI is a viable alternative to high throughput screening: a 318-target study. Scientific Reports. 2024; 14:7526.

Lin, Y; Zhao, X; Liou, B; Fannin, V; Zhang, W; Setchell, KD R; Wang, X; Pan, D; Grabowski, GA; Liu, CJ; Sun, Y. Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease. Human Molecular Genetics. 2024; 33:1771-1788.

Peng, Y; Liou, B; Lin, Y; Mayhew, CN; Fleming, SM; Sun, Y. iPSC-derived neural precursor cells engineering GBA1 recovers acid β-glucosidase deficiency and diminishes α-synuclein and neuropathology. Molecular Therapy-Methods & Clinical Development. 2023; 29:185-201.

Zhao, X; Lin, Y; Liou, B; Zhang, W; Liu, C; Sun, Y. A brain penetrant progranulin-derived biologic protects against neuronopathic Gaucher disease. Molecular Genetics and Metabolism. 2023; 138:107367.

Lin, Y; Zhao, X; Liou, B; Fannin, V; Zhang, W; Liu, Y; Wang, X; Pan, D; Grabowski, G; Liu, C; Sun, Y. Earlier-onset, more severe neurodegeneration in PGRN KO mice with a decreased dose of D409V Gba1. Molecular Genetics and Metabolism. 2023; 138:107207.

Zhao, X; Lin, Y; Liou, B; Fu, W; Jian, J; Fannin, V; Zhang, W; Setchell, KD R; Grabowski, GA; Sun, Y; Liu, CJ. PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases. Proceedings of the National Academy of Sciences of USA. 2023; 120:e2210442120.

Flunkert, S; Hutter-Paier, B; Sun, Y; Kehr, J. Editorial: Neuronopathic lysosomal storage diseases - specific neuronal characteristics and therapeutic approaches. Frontiers in Molecular Neuroscience. 2022; 15:1078804.

Shibuya, Y; Kumar, KK; Mader, MM D; Yoo, Y; Ayala, LA; Zhou, M; Mohr, MA; Neumayer, G; Kumar, I; Yamamoto, R; Heppner, FL; Wyss-Coray, T; Südhof, TC; Wernig, M. Treatment of a genetic brain disease by CNS-wide microglia replacement. Science Translational Medicine. 2022; 14:eabl9945.

Zhao, X; Hasan, S; Liou, B; Lin, Y; Sun, Y; Liu, C. Analysis of the Biomarkers for Neurodegenerative Diseases in Aged Progranulin Deficient Mice. International Journal of Molecular Sciences. 2022; 23:629.

Zhao, X; Liberti, R; Jian, J; Fu, W; Hettinghouse, A; Sun, Y; Liu, CJ. Progranulin associates with Rab2 and is involved in autophagosome-lysosome fusion in Gaucher disease. Journal of Molecular Medicine. 2021; 99:1639-1654.

Peng, Y; Liou, B; Lin, Y; Fannin, V; Zhang, W; Feldman, RA; Setchell, KD R; Grabowski, GA; Sun, Y. Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease. Cells. 2021; 10:2286.

Wilson, MW; Shu, L; Hinkovska-Galcheva, V; Jin, Y; Rajeswaran, W; Abe, A; Zhao, T; Luo, R; Wang, L; Wen, B; Sun, D; Sun, Y; Shayman, JA; Larsen, SD. Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3. ACS Chemical Neuroscience. 2020; 11:3464-3473.

Davis, HW; Vallabhapurapu, SD; Chu, Z; Wyder, MA; Greis, KD; Fannin, V; Sun, Y; Desai, PB; Pak, KY; Gray, BD; Qi, X. Biotherapy of Brain Tumors with Phosphatidylserine-Targeted Radioiodinated SapC-DOPS Nanovesicles. Cells. 2020; 9:E1960.

Sun, Y; Liou, B; Chu, Z; Fannin, V; Blackwood, R; Peng, Y; Grabowski, GA; Davis, HW; Qi, X. Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease. EBioMedicine. 2020; 55:102735.

Di Martino, S; Tardia, P; Cilibrasi, V; Caputo, S; Mazzonna, M; Russo, D; Penna, I; Realini, N; Margaroli, N; Migliore, M; Lansbury, P; Liu, M; Skerlj, R; Scarpelli, R. Lead Optimization of Benzoxazolone Carboxamides as Orally Bioavailable and CNS Penetrant Acid Ceramidase Inhibitors. Journal of Medicinal Chemistry. 2020; 63:3634-3664.

Miranda, CJ; Chisari, E; Northcott, N; Pandya, J; Liou, B; Fannin, V; Blackwood, R; Dane, A; Kia, A; Canavese, M; Khinder, J; Sheridan, R; Sun, Y; Corbau, R; Nathwani, AC. One-off liver directed AAV gene therapy achieves long term uptake of acid beta-glucocerebrosidase by macrophages of affected tissues in Gaucher disease. Molecular Genetics and Metabolism. 2020; 129:s110.

Zhao, X; Hettinghouse, A; Liou, B; Fannin, V; Blackwood, R; Liu, C; Sun, Y. The therapeutic effect of progranulin derived Pcgin on neuronopathic Gaucher disease. Molecular Genetics and Metabolism. 2020; 129:s165-s166.

Schiffer, V; Santiago-Mujika, E; Flunkert, S; Schmidt, S; Farcher, M; Loeffler, T; Schilcher, I; Posch, M; Neddens, J; Sun, Y; Kehr, J; Hutter-Paier, B. Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease. Editor, Silman I. PloS one. 2020; 15:e0227077.