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Chembiochem : a European Journal of Chemical Biology|May 27, 2025
Assembly of Branched Chain Amino Acids to Toxic Fibrils may be Related to Pathogenesis of Maple Syrup Urine DiseaseChandra Kanth P, Monisha Patel, Raj Dave, et al.American Journal of Hematology|October 26, 2005
Guidance on the use of miglustat for treating patients with type 1 Gaucher diseaseNeal J Weinreb, John A Barranger, Joel Charrow, et al.Human Molecular Genetics|August 3, 2019
Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher diseaseYanyan Peng, Benjamin Liou, Venette Inskeep, et al.Human Molecular Genetics|March 14, 2007
Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin traffickingYing Sun, David P Witte, Matt Zamzow, et al.The Journal of Physical Chemistry Letters|August 22, 2017
Electrostatic Constraints Assessed by 1H MAS NMR Illuminate Differences in Crystalline PolymorphsJoshua T Damron, Kortney M Kersten, Manoj Kumar Pandey, et al.Blood|March 11, 2004
Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapyRichard J Wenstrup, Laurie Bailey, Gregory A Grabowski, et al.The Journal of Cell Biology|May 26, 2010
The role of UDP-Glc:glycoprotein glucosyltransferase 1 in the maturation of an obligate substrate prosaposinBradley R Pearse, Taku Tamura, Johan C Sunryd, et al.Arteriosclerosis, Thrombosis, and Vascular Biology|May 17, 2003
Lysosomal enzymes are released from cultured human macrophages, hydrolyze LDL in vitro, and are present extracellularly in human atherosclerotic lesionsJukka K Hakala, Riina Oksjoki, Petri Laine, et al.Journal of Lipid Research|August 28, 2007
Apolipoprotein E-deficient lipoproteins induce foam cell formation by downregulation of lysosomal hydrolases in macrophagesDongFang Wu, Chakradhari Sharan, Hong Yang, et al.The Journal of Pediatrics|January 24, 2007
Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapyT Andrew Burrow, Mitchell B Cohen, Ronald Bokulic, et al.Pageof 20