Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Christine Oborski"'
Autor:
Yildirim Dogan, Cecilia N. Barese, Jeffrey W. Schindler, John K. Yoon, Zeenath Unnisa, Swaroopa Guda, Mary E. Jacobs, Christine Oborski, Tim Maiwald, Diana L. Clarke, Axel Schambach, Richard Pfeifer, Claudia Harper, Chris Mason, Niek P. van Til
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 464-487 (2022)
Pompe disease is a rare genetic neuromuscular disorder caused by acid α-glucosidase (GAA) deficiency resulting in lysosomal glycogen accumulation and progressive myopathy. Enzyme replacement therapy, the current standard of care, penetrates poorly i
Externí odkaz:
https://doaj.org/article/19aee40652b94df1a4979d0e41238f5c
Autor:
Zdenek Berger, Sarah Perkins, Claude Ambroise, Christine Oborski, Matthew Calabrese, Stephen Noell, David Riddell, Warren D Hirst
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0119141 (2015)
Mutations in glucocerebrosidase (GBA1) cause Gaucher disease and also represent a common risk factor for Parkinson's disease and Dementia with Lewy bodies. Recently, new tool molecules were described which can increase turnover of an artificial subst
Externí odkaz:
https://doaj.org/article/8f9a3b22faa94cbba6a4632a88d61010
Autor:
Yildirim Dogan, Cecilia N. Barese, Jeffrey W. Schindler, John K. Yoon, Zeenath Unnisa, Swaroopa Guda, Mary E. Jacobs, Christine Oborski, Diana L. Clarke, Axel Schambach, Richard Pfeifer, Claudia Harper, Chris Mason, Niek P. van Til
Pompe disease is a rare genetic neuromuscular disorder caused by acid alpha-glucosidase (GAA) deficiency resulting in lysosomal glycogen accumulation and progressive myopathy. Enzyme replacement therapy (ERT) is the current standard of care, which pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89f466bcec75e33a143d065b6b9e12b3
https://doi.org/10.1101/2021.12.28.474352
https://doi.org/10.1101/2021.12.28.474352
Autor:
Niek P. van Til, Jeffrey W. Schindler, John K. Yoon, Yildirim Dogan, Cecilia Barese, Zeenath Unnisa, Swaroopa Guda, Mary E. Jacobs, Daniella Pizzurro, Mirjam Trame, Tim Maiwald, Christine Oborski, Michael Rothe, Axel Schambach, Claudia Harper, Richard Pfeifer, Chris Mason
Publikováno v:
Molecular Genetics and Metabolism. 135:S122-S123
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de1279d6781c804ae79840898558fb0d
https://doi.org/10.1016/j.ymgme.2021.11.326
https://doi.org/10.1016/j.ymgme.2021.11.326
Autor:
Abhishek Chiyyeadu, Maurine Braun, Claudia Harper, Christopher E. Mason, Christine Oborski, Daniella Pizzurro, Axel Schambach, Niek P. van Til, Bianling Liu, John K. Yoon, Yildirim Dogan, Richard Pfeifer, Swaroopa Guda, Cecilia Barese, Zeenath Unnisa, Mary Jacobs, Rena Schindler
Publikováno v:
Molecular Genetics and Metabolism. 132:S107
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b5fb46096fd0af34b7066e480ee2072
https://doi.org/10.1016/j.ymgme.2020.12.263
https://doi.org/10.1016/j.ymgme.2020.12.263