Publications
Lieberman R. L., B. A. Wustman, P. Huertas, A. C. Powe, Jr., C. W. Pine, R. Khanna, M. G. Schlossmacher, D. Ringe and G. A. Petsko. 2007. Structure of acid-beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nature Chem. Biol. 3(2): 101-107.
Steet R, Chung S, Lee W, Pine C, Do H, Kornfeld S. Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-b-glucosidase. Biochem Pharmacol (2007), doi:10.1016/j.bcp.2006.12.015.
Parenti G, Zuppaldi A, Pittis MG, Tuzzi1 MR. Pharmacological Enhancement of Mutated a-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease. Molecular Therapy. 2007 March: vol. 15 no. 3: 508-514.
Steet RA, Chung S, Wustman B, Powe A, Do H, Kornfeld SA The iminosugar isofagomine increases the activity of N370S mutant acid b-glucosidase in Gaucher fibroblasts by several mechanisms. Proc Natl Acad Sci (USA), 2006; 37: 13813-13818.
Yam GH, Bosshard N, Zuber C, Steinmann B, Roth J. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am J Physiol Cell Physiol 290:C1076-C1082, 2006.
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006 Jul; 79(1):31-40. Epub 2006 Apr 28.
Ishii S, Yoshioka H, Mannen K, Kulkarni AB, Fan JQ. Transgenic mouse expressing human mutant α-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. Biochim Biophys Acta. 2004 Nov 5; 1690(3):250-7.
Yasuda K, Chang HH, Wu HL, Ishii S, Fan JQ. Efficient and rapid purification of recombinant human α-galactosidase A by affinity column chromatography. Protein Expr Purif. 2004 Oct; 37(2):499-506.
Romisch K. A cure for traffic jams: Small molecule chaperones in the endoplasmic reticulum. Traffic 2004; 5:815-820.
Fan JQ, Ishii S. Cell-based screening of active-site specific chaperone for the treatment of Fabry disease. Methods Enzymol. 2003; 363:412-20.
Fan JQ. A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci. 2003 Jul; 24(7):355-60.
Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ. Alternative splicing in the α-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet. 2002 Apr; 70(4):994-1002. Epub 2002 Feb 4.
Sawkar AR, Cheng WC, Beutler E, Wong CH, Balch WE, Kelly J. Chemical chaperones increase the cellular activity of N370S beta - glucosidase: A therapeutic strategy for Gaucher disease. Proc Natl Acad Sci. 2002 Nov; 99(24): 15428-15433.
Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ. Improvement in cardiac function in the cardiac variant of Fabry’s disease with galactose-infusion therapy. N Engl J Med, Vol. 345, No. 1. July 5, 2001.
Asano N, Ishii S, Kizu H, Ikeda K, Yasuda K, Kato A, Martin OR, Fan JQ. In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. Eur J Biochem. 2000 Jul; 267(13):4179-86.
Ishii S, Suzuki Y, Fan JQ. Role of Ser-65 in the activity of α-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease. Arch Biochem Biophys. 2000 May 15; 377(2):228-33.
Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med. 1999 Jan; 5(1):112-5.