Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Pascale M.N. Tiger"'
Autor:
Mika Aoyagi-Scharber, Danielle Crippen-Harmon, Roger Lawrence, Jon Vincelette, Gouri Yogalingam, Heather Prill, Bryan K. Yip, Brian Baridon, Catherine Vitelli, Amanda Lee, Olivia Gorostiza, Evan G. Adintori, Wesley C. Minto, Jeremy L. Van Vleet, Bridget Yates, Sara Rigney, Terri M. Christianson, Pascale M.N. Tiger, Melanie J. Lo, John Holtzinger, Paul A. Fitzpatrick, Jonathan H. LeBowitz, Sherry Bullens, Brett E. Crawford, Stuart Bunting
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 6, Iss C, Pp 43-53 (2017)
Sanfilippo syndrome type B (mucopolysaccharidosis IIIB), caused by inherited deficiency of α-N-acetylglucosaminidase (NAGLU), required for lysosomal degradation of heparan sulfate (HS), is a pediatric neurodegenerative disorder with no approved trea
Externí odkaz:
https://doaj.org/article/391415b4d80b4db49263e27fbcc2640a
Autor:
Jenna Magat, Samantha Jones, Brian Baridon, Vishal Agrawal, Hio Wong, Alexander Giaramita, Linley Mangini, Britta Handyside, Catherine Vitelli, Monica Parker, Natasha Yeung, Yu Zhou, Erno Pungor, Ilya Slabodkin, Olivia Gorostiza, Allora Aguilera, Melanie J. Lo, Saida Alcozie, Terri M. Christianson, Pascale M.N. Tiger, Jon Vincelette, Sylvia Fong, Geuncheol Gil, Chuck Hague, Roger Lawrence, Daniel J. Wendt, Jonathan H. Lebowitz, Stuart Bunting, Sherry Bullens, Brett E. Crawford, Sushmita M. Roy, Josh C. Woloszynek
Publikováno v:
Journal of Biological Chemistry. 298:102625
Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder caused by N-sulfoglucosamine sulfohydrolase (SGSH) deficiency. SGSH removes the sulfate from N-sulfoglucosamine residues on the nonreducing end of heparan sulfate (HS-NRE) wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e01f4c456057e6dee1bb3611fddc2d
https://doi.org/10.1016/j.jbc.2022.102625
https://doi.org/10.1016/j.jbc.2022.102625
Autor:
Jeremy L. Van Vleet, Mika Aoyagi-Scharber, Bryan K. Yip, Paul A. Fitzpatrick, Terri Christianson, Olivia Gorostiza, Gouri Yogalingam, Danielle Crippen-Harmon, Stuart Bunting, Heather Prill, Pascale M.N. Tiger, Evan G. Adintori, Sherry Bullens, Jonathan H. LeBowitz, Wesley C. Minto, Catherine Vitelli, Bridget Yates, Brian Baridon, Roger Lawrence, Brett E. Crawford, John Holtzinger, Jon Vincelette, Sara Rigney, Amanda Lee, Melanie J. Lo
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 6, Iss C, Pp 43-53 (2017)
Molecular Therapy: Methods & Clinical Development, Vol 6, Iss C, Pp 43-53 (2017)
Sanfilippo syndrome type B (mucopolysaccharidosis IIIB), caused by inherited deficiency of α-N-acetylglucosaminidase (NAGLU), required for lysosomal degradation of heparan sulfate (HS), is a pediatric neurodegenerative disorder with no approved trea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be65c6cfa3b3eb67e29a91c8c3b7e7a5
https://pubmed.ncbi.nlm.nih.gov/28664165
https://pubmed.ncbi.nlm.nih.gov/28664165
Autor:
Laurie S. Tsuruda, Steve Keve, Derek Kennedy, Istvan Sohar, Su Xu, Eugen Koren, Martin L. Katz, Rhea Cahayag, Shinichi Kanazono, Pascale M.N. Tiger, Peter Lobel, Stuart Bunting, Joan R. Coates, Brian R. Vuillemenot, Charles A. O'Neill
Publikováno v:
Molecular Genetics and Metabolism. 104:325-337
Late infantile neuronal ceroid lipofuscinosis (LINCL) is caused by mutations in the gene encoding tripeptidyl-peptidase 1 (TPP1). LINCL patients accumulate lysosomal storage materials in the CNS accompanied by neurodegeneration, blindness, and functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddda46625ced3a3cc77f4865f20c399d
https://doi.org/10.1016/j.ymgme.2011.06.018
https://doi.org/10.1016/j.ymgme.2011.06.018
Autor:
Mika Aoyagi-Scharber, Terri Christianson, John Holtzinger, Danielle Harmon, Lin Xie, Anil Bagri, Jon Vincelette, Paul A. Fitzpatrick, Sara Rigney, Bryan K. Yip, Jonathan H. LeBowitz, Melanie J. Lo, Pascale M.N. Tiger, Catherine Vitelli, Bridget Yates, Brian Baridon, Pam Santiago, Eric Chen, Sherry Bullens, Wesley C. Minto, Olivia Gorostiza, Stuart Bunting
Publikováno v:
Molecular Genetics and Metabolism. 117:S23-S24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::38f231ddc54767352d890d96b3507a80
https://doi.org/10.1016/j.ymgme.2015.12.187
https://doi.org/10.1016/j.ymgme.2015.12.187
Autor:
Shih-hsin Kan, Zhi Chen, Stuart Bunting, Brett E. Crawford, Wesley Wong, Anil Bagri, Evan G. Adintori, John Holtzinger, Melanie J. Lo, Elizabeth F. Neufeld, Danielle Crippen-Harmon, Paul A. Fitzpatrick, Jillian R. Brown, Josh C. Woloszynek, Pascale M.N. Tiger, Kristen N. Vondrak, Diana S. Cheung, Kazuhiro Ohmi, Jon Vincelette, Sherry Bullens, Jonathan H. LeBowitz, Chuck Hague, Steven Q. Le, Roger Lawrence, Terri Christianson, Bryan K. Yip, Daniel J. Wendt, Katherine A. Webster, Mika Aoyagi-Scharber, Patricia I. Dickson
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, vol 111, iss 41
Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disease characterized by profound intellectual disability, dementia, and a lifespan of about two decades. The cause is mutation in the gene encoding α–N-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6e9cef317d3d7e5f182f493e8a4dd4c
https://europepmc.org/articles/PMC4205671/
https://europepmc.org/articles/PMC4205671/
Autor:
Brett E. Crawford, Heather Prill, Geoffrey Y. Berguig, Amanda Lee, Pascale M.N. Tiger, Gouri Yogalingam, Bryan K. Yip, Mika Aoyagi-Scharber, Paul A. Fitzpatrick, Terri Christianson, John Holtzinger, Melanie J. Lo, Roger Lawrence, Jonathan H. LeBowitz
Publikováno v:
Molecular Genetics and Metabolism. 117:S122
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d3dd79a86fb66f12d64da18c4c82d1a
https://doi.org/10.1016/j.ymgme.2015.12.491
https://doi.org/10.1016/j.ymgme.2015.12.491
Autor:
Jillian R. Brown, Danielle Crippen-Harmon, Stuart Bunting, Paul A. Fitzpatrick, Mika Aoyagi-Scharber, Anil Bagri, Sherry Bullens, John Holtzinger, Bryan K. Yip, Jon Vincelette, Heather Prill, Roger Lawrence, Evan G. Adintori, Wesley C. Minto, Eric Chen, Jeremy Van Vleet, Pascale M.N. Tiger, Brian Baridon, Catherine Vitelli, Brett E. Crawford, Terri Christianson, Melanie J. Lo, Jonathan H. LeBowitz, Katherine A. Webster
Publikováno v:
Molecular Genetics and Metabolism. 117:S21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b8b57352c2844156870701864495a0f
https://doi.org/10.1016/j.ymgme.2015.12.180
https://doi.org/10.1016/j.ymgme.2015.12.180
Autor:
Bin Zhao, Jeffrey F. Lemontt, Pascale M.N. Tiger, Brigette L. Tippin, Steven Q. Le, Javier Femenia, Emil D. Kakkis, Thomas Lester, Patricia I. Dickson, Merry Passage, Scott Clarke, Moin Vera
Publikováno v:
JIMD Reports ISBN: 9783642334320
The immune response to exogenous protein has been shown to reduce therapeutic efficacy in animal models of enzyme replacement therapy. A previously published study demonstrated an immunosuppressive regimen which successfully induced immune tolerance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf75b41f65bc0b8fc22cc621602cc7b7
https://doi.org/10.1007/8904_2012_162
https://doi.org/10.1007/8904_2012_162
Autor:
Zhi Chen, Patricia I. Dickson, Daniel J. Wendt, Jonathan H. LeBowitz, Josh C. Woloszynek, Pascale M.N. Tiger, Melanie J. Lo, Bryan K. Yip, Mika Aoyagi-Scharber, Paul A. Fitzpatrick, Terri Christianson, Diana S. Cheung, John Holtzinger
Publikováno v:
Molecular Genetics and Metabolism. 111:S20
and only these have osteonecrosis; 5 received ERT at some time; age (range) diagnosed PD=56.4 (43-72) years; first PD signwas tremor in 9 (64.3%); cognitive dysfunction in all 14 GD+ PD. In GD+ PD, there was nearly twice larger Odds Ratio (OR) for th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e46cc5ecfd83d6ad72c3175338f8f936
https://doi.org/10.1016/j.ymgme.2013.12.026
https://doi.org/10.1016/j.ymgme.2013.12.026