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Cell|June 25, 2011
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathiesJoseph R Mazzulli, You-Hai Xu, Ying Sun, et al.
Journal of Lipid Research|December 3, 2013
Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier functionJorge F Haller, Paul Cavallaro, Nicholas J Hernandez, et al.
BMC Genomics|January 13, 2011
Global gene expression profile progression in Gaucher disease mouse modelsYou-Hai Xu, Li Jia, Brian Quinn, et al.
Molecular Genetics and Metabolism|May 20, 2014
Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency diseaseYing Sun, You-Hai Xu, Hong Du, et al.
BMC Neuroscience|August 5, 2008
Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient miceYing Sun, Li Jia, Michael T Williams, et al.
Molecular Genetics and Metabolism|January 2, 2017
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher RegistryAmal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, et al.
Frontiers in Cell and Developmental Biology|March 21, 2025
A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expressionTien Le, Stephanie Htun, Manoj Kumar Pandey, et al.
ACS Chemical Neuroscience|February 19, 2024
Amyloidogenic Propensity of Metabolites in the Uric Acid Pathway and Urea Cycle Critically Impacts the Etiology of Metabolic DisordersMonisha Patel, Ankita Jaiswal, Anam Naseer, et al.
Plos One|May 3, 2011
Isofagomine in vivo effects in a neuronopathic Gaucher disease mouseYing Sun, Huimin Ran, Benjamin Liou, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 27, 2022
PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseasesXiangli Zhao, Yi Lin, Benjamin Liou, et al.
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