Jian Qiang Fan

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. ncbi request reprint Efficient and rapid purification of recombinant human alpha-galactosidase A by affinity column chromatography
    Kayo Yasuda
    Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Protein Expr Purif 37:499-506. 2004
  2. ncbi request reprint A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity
    Jian Qiang Fan
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Biol Chem 389:1-11. 2008
  3. ncbi request reprint Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors
    Jian Qiang Fan
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY10029, USA
    FEBS J 274:4962-71. 2007
  4. ncbi request reprint Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Biochim Biophys Acta 1690:250-7. 2004
  5. pmc Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, U S A
    Biochem J 406:285-95. 2007
  6. ncbi request reprint Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients
    Hui Hwa Chang
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    FEBS J 273:4082-92. 2006
  7. ncbi request reprint A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity
    Jian Qiang Fan
    Mount Sinai School of Medicine, Department of Human Genetics, 5th Avenue at 100th Street, New York, NY 10029, USA
    Trends Pharmacol Sci 24:355-60. 2003
  8. ncbi request reprint Cell-based screening of active-site specific chaperone for the treatment of Fabry disease
    Jian Qiang Fan
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100 Street, New York, New York 10029, USA
    Methods Enzymol 363:412-20. 2003
  9. doi request reprint Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Pharmacol Exp Ther 328:723-31. 2009
  10. pmc Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10019, USA
    Am J Hum Genet 70:994-1002. 2002

Collaborators

Detail Information

Publications13

  1. ncbi request reprint Efficient and rapid purification of recombinant human alpha-galactosidase A by affinity column chromatography
    Kayo Yasuda
    Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Protein Expr Purif 37:499-506. 2004
    ..A protocol that purifies an intracellular mutant alpha-Gal A (M279I) expressed in COS-7 cells within 6h at 62% overall yield is presented...
  2. ncbi request reprint A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity
    Jian Qiang Fan
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Biol Chem 389:1-11. 2008
    ..In addition, a generalized guidance for the design and screening of ASSCs is also presented...
  3. ncbi request reprint Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors
    Jian Qiang Fan
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY10029, USA
    FEBS J 274:4962-71. 2007
    ....
  4. ncbi request reprint Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Biochim Biophys Acta 1690:250-7. 2004
    ..These TgM/KO mice and TMK cells are useful tools for studying the mechanism of ASSC therapy, and for screening ASSCs for Fabry disease...
  5. pmc Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, U S A
    Biochem J 406:285-95. 2007
    ..Excessive degradation in the ER could be responsible for the deficiency of enzyme activity in vivo, and the DGJ approach may be broadly applicable to Fabry disease patients with missense mutations...
  6. ncbi request reprint Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients
    Hui Hwa Chang
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    FEBS J 273:4082-92. 2006
    ..The hydrophilic active-site-specific chaperones are less toxic to cultured cells. These results indicate that these hydrophilic small molecules are suitable candidates for further drug development for the treatment of Gaucher disease...
  7. ncbi request reprint A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity
    Jian Qiang Fan
    Mount Sinai School of Medicine, Department of Human Genetics, 5th Avenue at 100th Street, New York, NY 10029, USA
    Trends Pharmacol Sci 24:355-60. 2003
  8. ncbi request reprint Cell-based screening of active-site specific chaperone for the treatment of Fabry disease
    Jian Qiang Fan
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100 Street, New York, New York 10029, USA
    Methods Enzymol 363:412-20. 2003
  9. doi request reprint Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Pharmacol Exp Ther 328:723-31. 2009
    ..These preclinical results indicate that DGJ is effective in restoring mutant enzyme activity in tissues and reversing substrate storage in kidney and is well tolerated in mice...
  10. pmc Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10019, USA
    Am J Hum Genet 70:994-1002. 2002
    ..The normal transcript was present in the patients' lymphoblasts and resulted in approximately 10% residual enzyme activity, leading to a cardiac phenotype of Fabry disease...
  11. ncbi request reprint Pharmacological chaperone therapy for lysosomal storage disorders - leveraging aspects of the folding pathway to maximize activity of misfolded mutant proteins
    Jian Qiang Fan
    Pfantastic Medical Research Institute, Cresskill, NJ, USA
    FEBS J 274:4943. 2007
  12. ncbi request reprint Rational design and synthesis of highly potent beta-glucocerebrosidase inhibitors
    Xiaoxiang Zhu
    Amicus Therapeutics Inc, Cranbury, NJ 08512, USA
    Angew Chem Int Ed Engl 44:7450-3. 2005
  13. doi request reprint Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes
    Ryoji Hamanaka
    Department of Anatomy, Biology and Medicine, Faculty of Medicine, Oita University, Oita, Japan
    Biochim Biophys Acta 1782:408-13. 2008
    ..These data suggest that the rescue of R301Q from ERAD is a key step for normalization of intracellular trafficking of R301Q...