Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Elizabeth F. Neufeld"'
Publikováno v:
PLoS ONE, Vol 7, Iss 1 (2012)
Externí odkaz:
https://doaj.org/article/ac0b6fffdf2c42ffa6cf1d9fe1edd99d
Publikováno v:
PLoS ONE, Vol 6, Iss 11, p e27461 (2011)
Sanfilippo syndrome type B (MPS IIIB) is characterized by profound mental retardation in childhood, dementia and death in late adolescence; it is caused by deficiency of α-N-acetylglucosaminidase and resulting lysosomal storage of heparan sulfate. A
Externí odkaz:
https://doaj.org/article/ca1182ff83834bcdbb3bb7ef938c24e2
Autor:
Frances M. Platt, Cynthia J. Tifft, Beverly L. Davidson, Alessandra d'Azzo, Elizabeth F. Neufeld
Publikováno v:
Nature Reviews Disease Primers. 5
In the originally published version of Figure 3, APP was incorrectly linked to CMA. In addition, the label for NCP2 was omitted, and GlcSph was incorrectly labelled as GlcCer. This figure has now been corrected.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9d545657f4fded2c58475d2ecd5be95
https://doi.org/10.1038/s41572-019-0089-9
https://doi.org/10.1038/s41572-019-0089-9
Autor:
Frances M. Platt, Cynthia J. Tifft, Alessandra d'Azzo, Elizabeth F. Neufeld, Beverly L. Davidson
Publikováno v:
Nature Reviews Disease Primers. 4
In the version of the article originally published, in Figure 2 and the accompanying legend, LIMP 2 was incorrectly referred to as LIMP 1. The article has now been corrected.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19b1db35967253886f48d950da019e8c
https://doi.org/10.1038/s41572-018-0037-0
https://doi.org/10.1038/s41572-018-0037-0
Autor:
Frances M. Platt, Cynthia J. Tifft, Alessandra d'Azzo, Beverly L. Davidson, Elizabeth F Neufeld
Publikováno v:
Nature Reviews Disease primers. 4
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 liv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aa879116039d4b12183e8101a57e0e4
http://ora.ox.ac.uk/objects/uuid:
http://ora.ox.ac.uk/objects/uuid:
Autor:
Kenneth R. Dellamaggiore, Rachel Myerowitz, Audrey L. Fan, Meikana Lizadjohry, George A. Chernis, Christopher P. Ouellette, Elizabeth F. Neufeld, Cecilia D. Sedano, Francis E. Baltasar, Michelle Gonzales, Chi-hong B. Chen
Publikováno v:
Proceedings of the National Academy of Sciences. 105:15908-15913
Enzyme replacement therapy for lysosomal storage diseases is currently based on endocytosis of lysosomal enzymes via the mannose or mannose 6-phosphate receptors. We are developing a technology for endocytosis of lysosomal enzymes that depends on gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f139a94a552c54a7271df64b74e80b2
https://doi.org/10.1073/pnas.0808360105
https://doi.org/10.1073/pnas.0808360105
Autor:
Elizabeth F. Neufeld
Publikováno v:
The FASEB Journal. 27:4661-4663
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f6126e61978f46f4954f386f9ecb123
https://doi.org/10.1096/fj.13-1201ufm
https://doi.org/10.1096/fj.13-1201ufm
Autor:
Yi Zheng, Noriko Satake, Donald B. Kohn, Elizabeth F. Neufeld, Sergey Ryazantsev, Nora Rozengurt
Publikováno v:
Molecular Genetics and Metabolism. 79:233-244
Mucopolysaccharidosis I is a lysosomal storage disorder caused by mutations in the IDUA gene, resulting in deficiency of α-l-iduronidase and accumulation of glycosaminoglycans. Bone marrow transplantation has been the only available therapy, soon to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a248f1590d73a11ae6373b360f864f
https://doi.org/10.1016/s1096-7192(03)00116-1
https://doi.org/10.1016/s1096-7192(03)00116-1
Publikováno v:
Journal of Neuroscience Research. 69:30-38
Sanfilippo syndrome type B (MPS III B) is a neurodegenerative disorder characterized by profound mental retardation and early death. It is caused by deficiency of a lysosomal enzyme involved in heparan sulfate (HS) degradation. Because HS accumulatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b50a00ae4ac434934bd31e6dd74ea1c7
https://doi.org/10.1002/jnr.10278
https://doi.org/10.1002/jnr.10278
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/
