Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Mika Aoyagi"'
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:
Gouri Yogalingam, Amanda R Luu, Heather Prill, Melanie J Lo, Bryan Yip, John Holtzinger, Terri Christianson, Mika Aoyagi-Scharber, Roger Lawrence, Brett E Crawford, Jonathan H LeBowitz
Publikováno v:
PLoS ONE, Vol 14, Iss 1, p e0207836 (2019)
Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devasta
Externí odkaz:
https://doaj.org/article/61f67561557e43deb10bf75caf69b046
Publikováno v:
PLoS ONE, Vol 13, Iss 7, p e0200008 (2018)
Given the large and expanding quantity of publicly available sequencing data, it should be possible to extract incidence information for monogenic diseases from allele frequencies, provided one knows which mutations are causal. We tested this idea on
Externí odkaz:
https://doaj.org/article/d386bcf187ea4de08dc067e03e25287f
Autor:
Melanie J. Lo, Heather Prill, Mika Aoyagi-Scharber, Gouri Yogalingam, Terri Christianson, Amanda R. Luu, Roger Lawrence, John Holtzinger, Brett E. Crawford, Bryan K. Yip, Jonathan H. LeBowitz
Publikováno v:
PLoS ONE, Vol 14, Iss 1, p e0207836 (2019)
PLoS ONE
PLoS ONE
Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devasta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e93b66ae467d8aa853d8b27b6cc4affb
https://doaj.org/article/61f67561557e43deb10bf75caf69b046
https://doaj.org/article/61f67561557e43deb10bf75caf69b046
Publikováno v:
JOURNAL OF THE ILLUMINATING ENGINEERING INSTITUTE OF JAPAN. 100:82-86
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93f12fc6629c4431b22be5dd629e93d4
https://doi.org/10.2150/jieij.100.82
https://doi.org/10.2150/jieij.100.82
Autor:
Charles O'Neill, Mika Aoyagi-Scharber, Jukka Poulivali, Sundeep Chandra, Ashley Frazer-Abel, Maria Hedlund, Nicole A. Datson, Andrew Melton, David Jacoby, M Benjamin Hock, Ganesh Cherala, Sylvia Fong, Todd M. Oppeneer, Judith C.T. van Deutekom, Shripad Bhagwat, Xiefan Fang
Publikováno v:
Neuromuscular Disorders. 30:S169
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62757f5a5f388bc014db46727eef5769
https://doi.org/10.1016/j.nmd.2020.09.015
https://doi.org/10.1016/j.nmd.2020.09.015
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 7, p e0200008 (2018)
PLoS ONE, Vol 13, Iss 7, p e0200008 (2018)
Given the large and expanding quantity of publicly available sequencing data, it should be possible to extract incidence information for monogenic diseases from allele frequencies, provided one knows which mutations are causal. We tested this idea on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99db2df55380f8465ab6f0a0330b680b
http://europepmc.org/articles/PMC6034809
http://europepmc.org/articles/PMC6034809
Publikováno v:
Journal of Medicinal Chemistry. 59:335-357
We discovered and developed a novel series of tetrahydropyridophthlazinones as poly(ADP-ribose) polymerase (PARP) 1 and 2 inhibitors. Lead optimization led to the identification of (8S,9R)-47 (talazoparib; BMN 673; (8S,9R)-5-fluoro-8-(4-fluorophenyl)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7482035f39b64c48c2acc8187410acd
https://doi.org/10.1021/acs.jmedchem.5b01498
https://doi.org/10.1021/acs.jmedchem.5b01498
Autor:
Florence Lorget, Sean M. Bell, Mika Aoyagi-Scharber, Sianna Castillo, William R. Wilcox, Pavel Krejci, Melita Dvorak-Ewell, David L. Rimoin, Jeff Peng, Charles A. O’Neill, Stuart Bunting, Daniel J. Wendt, Sherry Bullens
Publikováno v:
Journal of Pharmacology and Experimental Therapeutics. 353:132-149
Achondroplasia (ACH), the most common form of human dwarfism, is caused by an activating autosomal dominant mutation in the fibroblast growth factor receptor-3 gene. Genetic overexpression of C-type natriuretic peptide (CNP), a positive regulator of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754c5c256ff0cb2abb4eb6148f359496
https://doi.org/10.1124/jpet.114.218560
https://doi.org/10.1124/jpet.114.218560
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