Concepedia

N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease

Hou Lin, Yuko Sugimoto, Yuki Ohsaki, Haruaki Ninomiya, Akira Oka, Miyako Taniguchi, Hiroyuki Ida, Yoshikatsu Eto, Seiichiro Ogawa, Miwa Sawa,

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2004 · 125 citations · 24 references

DOI

Concepts

References

24

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease

Norman W. Barton, Roscoe O. Brady, James M. Dambrosia et al. · New England Journal of Medicine · 1991 · 1.3K citations · Full text

, , +17

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

Timothy M. Cox, Robin Lachmann, C. E. Hollak et al. · The Lancet · 2000 · 744 citations

, , +4

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

Jianqiang Fan, Naoki Asano, Yoshiyuki Suzuki · Nature Medicine · 1999 · 613 citations

, , +14

Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease

Anu R. Sawkar, Wei‐Chieh Cheng, Ernest Beutler et al. · Proceedings of the National Academy of Sciences · 2002 · 503 citations · Full text

, , +15