Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Jennifer B. Nietupski"'
Autor:
Karen M Ashe, Dinesh Bangari, Lingyun Li, Mario A Cabrera-Salazar, Scott D Bercury, Jennifer B Nietupski, Christopher G F Cooper, Johannes M F G Aerts, Edward R Lee, Diane P Copeland, Seng H Cheng, Ronald K Scheule, John Marshall
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e21758 (2011)
The neuropathic glycosphingolipidoses are a subgroup of lysosomal storage disorders for which there are no effective therapies. A potential approach is substrate reduction therapy using inhibitors of glucosylceramide synthase (GCS) to decrease the sy
Externí odkaz:
https://doaj.org/article/cd3e8f6aa28047d9b5d2eaa2ee1c6e5d
Autor:
Dinesh S. Bangari, Amy Allaire, John P. Leonard, Jennifer B. Nietupski, Hyejung Park, John Marshall, Bing Wang, Gregory A. Grabowski, Eva Budman, Ying Sun, Seng H. Cheng, Mary A Cromwell
Publikováno v:
Molecular Therapy
Gaucher disease (GD) is caused by a deficiency of glucocerebrosidase and the consequent lysosomal accumulation of unmetabolized glycolipid substrates. Enzyme-replacement therapy adequately manages the visceral manifestations of nonneuronopathic type-
Autor:
Paul J. Orchard, Helen Klodnitsky, Drew Tietz, Elina Makino, John P. Leonard, Troy C. Lund, James Lillie, Weston P. Miller, John Marshall, Clifford Phaneuf, Alexey Belenki, Marissa Donovan, Jennifer B. Nietupski, Mariet L. Varban
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-3 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-3 (2018)
Certain recessively inherited diseases result from an enzyme deficiency within lysosomes. In mucopolysaccharidoses (MPS), a defect in glycosaminoglycan (GAG) degradation leads to GAG accumulation followed by progressive organ and multiple system dysf
Autor:
Elina Makino, Paul J. Orchard, John P. Leonard, James Lillie, Troy C. Lund, Weston P. Miller, John Marshall, Marissa Donovan, Clifford Phaneuf, Drew Tietz, Mariet L. Varban, Jennifer B. Nietupski, Alexey Belenki, Helen Klodnitsky
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific Reports
Scientific Reports
Certain recessively inherited diseases result from an enzyme deficiency within lysosomes. In mucopolysaccharidoses (MPS), a defect in glycosaminoglycan (GAG) degradation leads to GAG accumulation followed by progressive organ and multiple system dysf
Autor:
John Marshall, Jennifer B. Nietupski, Dinesh Bangari, Hyejung Park, Kristen Randall, Drew Tietz, Bing Wang, Terry Wilper, John P. Leonard, Seng H. Cheng
Publikováno v:
Molecular Genetics and Metabolism. 123:S91-S92
Autor:
Kimberly Maratea, Ronald K. Scheule, Jennifer B. Nietupski, Joshua Pacheco, Karen M. Ashe, Seng H. Cheng, Lingyun Li, John Marshall, Wei-Lien Chuang, Joseph W. Foley, Johannes M. F. G. Aerts, Diane Copeland, Christopher G.F. Cooper
Publikováno v:
Molecular genetics and metabolism, 105(4), 621-628. Academic Press Inc.
Niemann Pick type C (NPC) disease is a progressive neurodegenerative disease caused by mutations in NPC1 or NPC2, the gene products of which are involved in cholesterol transport in late endosomes. NPC is characterized by an accumulation of cholester
Autor:
Qiuming Chu, Gregory D Hurlbut, Mark Bree, John Marshall, Ronald K. Scheule, Karen M. Ashe, Richard J. Gregory, Jennifer B. Nietupski, Seng H. Cheng, Robin J. Ziegler, Bradley L. Hodges
Publikováno v:
Molecular Therapy. 19(11):1999-2011
In mice, liver-restricted expression of lysosomal enzymes from adeno-associated viral serotype 8 (AAV8) vectors results in reduced antibodies to the expressed proteins. To ask whether this result might translate to patients, nonhuman primates (NHPs)
Autor:
Scott D. Bercury, John Marshall, Nilesh Pande, Lisa Woodworth, Seng H. Cheng, Ronald K. Scheule, Jennifer B. Nietupski, Mark Bree, David W. Souza, Robin J. Ziegler, Michael Lukason, Elizabeth Meyers, Joseph W. Foley, Gregory D Hurlbut
Publikováno v:
Molecular Therapy. 18:1983-1994
Liver-directed gene therapy with adeno-associated virus (AAV) vectors effectively treats mouse models of lysosomal storage diseases (LSDs). We asked whether these results were likely to translate to patients. To understand to what extent preexisting
Autor:
Dinesh S. Bangari, Craig Siegel, John Marshall, Seng H. Cheng, Bing Wang, Eva Budman, Jennifer B. Nietupski, Ronald K. Scheule, Karen M. Ashe, Robert J. Desnick, John P. Leonard
Publikováno v:
Molecular medicine (Cambridge, Mass.). 21
Fabry disease, an X-linked glycosphingolipid storage disorder, is caused by the deficient activity of α-galactosidase A (α-Gal A). This results in the lysosomal accumulation in various cell types of its glycolipid substrates, including globotriaosy
Autor:
Elizabeth Hutto, Wei-Lien Chuang, Gregory A. Grabowski, Seng H. Cheng, Kerry Anne McEachern, John Marshall, Jennifer B. Nietupski, Jennifer Johnson, Donna Armentano
Publikováno v:
The Journal of Gene Medicine. 8:719-729
Background Gaucher disease is the most common of the lysosomal storage disorders. The primary manifestation is the accumulation of glucosylceramide (GL-1) in the macrophages of liver and spleen (Gaucher cells), due to a deficiency in the lysosomal hy