Glucosylsphingosine is a key biomarker of Gaucher disease
Murugesan, Vagishwari, Chuang, Wei‐Lien, Liu, Jun, Lischuk, Andrew, Kacena, Katherine, Lin, Haiqun, Pastores, Gregory M., Yang, Ruhua, Keutzer, Joan, Zhang, Kate, Mistry, Pramod K.
Published in American journal of hematology (01.11.2016)
Published in American journal of hematology (01.11.2016)
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Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis
Dodge, James C, Christopher M. Treleaven, Joshua Pacheco, Samantha Cooper, Channa Bao, Marissa Abraham, Mandy Cromwell, S. Pablo Sardi, Wei-Lien Chuang, Richard L. Sidman, Seng H. Cheng, Lamya S. Shihabuddin
Published in Proceedings of the National Academy of Sciences - PNAS (30.06.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (30.06.2015)
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Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
Mistry, Pramod K., Liu, Jun, Li Sun, Chuang, Wei-Lien, Yuen, Tony, Yang, Ruhua, Lu, Ping, Zhang, Kate, Li, Jianhua, Keutzer, Joan, Stachnik, Agnes, Mennone, Albert, Boyer, James L., Jain, Dhanpat, Brady, Roscoe O., New, Maria I., Zaidi, Mone
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.2014)
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Gaucher disease gene GBA functions in immune regulation
Liu, Jun, Halene, Stephanie, Yang, Mei, Iqbal, Jameel, Yang, Ruhua, Mehal, Wajahat Z, Chuang, Wei-Lien, Jain, Dhanpat, Yuen, Tony, Sun, Li, Zaidi, Mone, Mistry, Pramod K
Published in Proceedings of the National Academy of Sciences - PNAS (19.06.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (19.06.2012)
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Journal Article
Multiplex Enzyme Assay Screening of Dried Blood Spots for Lysosomal Storage Disorders by Using Tandem Mass Spectrometry
Zhang, X. Kate, Elbin, Carole S, Chuang, Wei-Lien, Cooper, Samantha K, Marashio, Carla A, Beauregard, Christa, Keutzer, Joan M
Published in Clinical chemistry (Baltimore, Md.) (01.10.2008)
Published in Clinical chemistry (Baltimore, Md.) (01.10.2008)
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Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease
Marshall, John, Ashe, Karen M, Bangari, Dinesh, McEachern, KerryAnne, Chuang, Wei-Lien, Pacheco, Joshua, Copeland, Diane P, Desnick, Robert J, Shayman, James A, Scheule, Ronald K, Cheng, Seng H
Published in PloS one (24.11.2010)
Published in PloS one (24.11.2010)
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A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease
McEachern, Kerry Anne, Fung, John, Komarnitsky, Svetlana, Siegel, Craig S., Chuang, Wei-Lien, Hutto, Elizabeth, Shayman, James A., Grabowski, Gregory A., Aerts, Johannes M.F.G., Cheng, Seng H., Copeland, Diane P., Marshall, John
Published in Molecular genetics and metabolism (01.07.2007)
Published in Molecular genetics and metabolism (01.07.2007)
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Journal Article
Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann–Pick C mice
Nietupski, Jennifer B., Pacheco, Joshua J., Chuang, Wei-Lien, Maratea, Kimberly, Li, Lingyun, Foley, Joseph, Ashe, Karen M., Cooper, Christopher G.F., Aerts, Johannes M.F.G., Copeland, Diane P., Scheule, Ronald K., Cheng, Seng H., Marshall, John
Published in Molecular genetics and metabolism (01.04.2012)
Published in Molecular genetics and metabolism (01.04.2012)
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Journal Article
Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy
Marshall, John, McEachern, Kerry Anne, Chuang, Wei-Lien, Hutto, Elizabeth, Siegel, Craig S, Shayman, James A, Grabowski, Greg A, Scheule, Ronald K, Copeland, Diane P, Cheng, Seng H
Published in Journal of inherited metabolic disease (01.06.2010)
Published in Journal of inherited metabolic disease (01.06.2010)
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Journal Article
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease
McEachern, Kerry Anne, Nietupski, Jennifer B., Chuang, Wei-Lien, Armentano, Donna, Johnson, Jennifer, Hutto, Elizabeth, Grabowski, Gregory A., Cheng, Seng H., Marshall, John
Published in The journal of gene medicine (01.06.2006)
Published in The journal of gene medicine (01.06.2006)
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Implementation of newborn screening for Krabbe disease: Population study and cutoff determination
Orsini, Joseph J., Morrissey, Mark A., Slavin, Laura N., Wojcik, Matthew, Biski, Chad, Martin, Monica, Keutzer, Joan, Zhang, X. Kate, Chuang, Wei-Lien, Elbin, Carole, Caggana, Michele
Published in Clinical biochemistry (01.06.2009)
Published in Clinical biochemistry (01.06.2009)
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Journal Article
Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease
Murugesan, Vagishwari, Liu, Jun, Yang, Ruhua, Lin, Haiquin, Lischuk, Andrew, Pastores, Gregory, Zhang, Xiaokui, Chuang, Wei-Lien, Mistry, Pramod K
Published in Blood cells, molecules, & diseases (01.02.2018)
Published in Blood cells, molecules, & diseases (01.02.2018)
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Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate
Chuang, Wei-Lien, Pacheco, Joshua, Cooper, Samantha, Kingsbury, Jonathan S., Hinds, John, Wolf, Pavlina, Oliva, Petra, Keutzer, Joan, Cox, Gerald F., Zhang, Kate
Published in Molecular genetics and metabolism reports (01.06.2015)
Published in Molecular genetics and metabolism reports (01.06.2015)
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A retro-inverso α-melanocyte stimulating hormone analog with MC1R-binding selectivity
Weeden, Timothy, Stefano, Jim, Duan, Su, Edling, Andrea, Hou, Lihui, Chuang, Wei-Lien, Perricone, Michael A., Pan, Clark, Dzuris, John L.
Published in Journal of peptide science (01.01.2011)
Published in Journal of peptide science (01.01.2011)
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Journal Article
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
Mistry, Pramod K., Liu, Jun, Yang, Mei, Nottoli, Timothy, McGrath, James, Jain, Dhanpat, Zhang, Kate, Keutzer, Joan, Chuang, Wei-Lein, Mehal, Wajahat Z., Zhao, Hongyu, Lin, Aiping, Mane, Shrikant, Liu, Xuan, Peng, Yuan Z., Li, Jian H., Agrawal, Manasi, Zhu, Ling-Ling, Blair, Harry C., Robinson, Lisa J., Iqbal, Jameel, Sun, Li, Zaidi, Mone, New, Maria I.
Published in Proceedings of the National Academy of Sciences - PNAS (09.11.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (09.11.2010)
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Journal Article
Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease
Chuang, Wei-Lien, Pacheco, Josh, Zhang, X. Kate, Martin, Monica M., Biski, Chad K., Keutzer, Joan M., Wenger, David A., Caggana, Michele, Orsini, Joseph J.
Published in Clinica chimica acta (18.04.2013)
Published in Clinica chimica acta (18.04.2013)
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Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency: The utility of animal models of disease in the toxicological evaluation of potential therapeutics
Murray, James M., Thompson, Anne Marie, Vitsky, Allison, Hawes, Michael, Chuang, Wei-Lien, Pacheco, Joshua, Wilson, Stephen, McPherson, John M., Thurberg, Beth L., Karey, Kenneth P., Andrews, Laura
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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