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Brain, Behavior, & Immunity - Health|September 2, 2025
Emerging role of complement system in the induction of neuroinflammation in adenylosuccinate lyase deficiency disorderAlbert Frank Magnusen, Robert James Hopkin, Charles Vorhees, et al.
Molecular Genetics and Metabolism|March 20, 2025
Challenges in Gaucher disease: Perspectives from an expert panelGregory A Grabowski, Priya S Kishnani, Roy N Alcalay, et al.
Plos One|August 28, 2015
Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's DiseaseKazuyuki Kitatani, Masayuki Wada, David Perry, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 21, 2015
Spiral ganglion degeneration and hearing loss as a consequence of satellite cell death in saposin B-deficient miceOmar Akil, Ying Sun, Sarath Vijayakumar, et al.
Journal of Lipid Research|April 17, 2008
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in miceHong Du, Terri L Cameron, Stephen J Garger, et al.
The Journal of Biological Chemistry|March 13, 2009
Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formationKazuyuki Kitatani, Kely Sheldon, Vinodh Rajagopalan, et al.
Cells|September 28, 2021
Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher DiseaseYanyan Peng, Benjamin Liou, Yi Lin, et al.
Scientific Reports|April 5, 2019
Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotypeBenjamin Liou, Wujuan Zhang, Venette Fannin, et al.
The Journal of Gene Medicine|March 11, 2006
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher diseaseKerry Anne McEachern, Jennifer B Nietupski, Wei-Lien Chuang, et al.
Seminars in Hematology|October 7, 2004
Therapeutic goals in the treatment of Gaucher diseaseGregory M Pastores, Neal J Weinreb, Hans Aerts, et al.
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