Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Hung V Do"'
Autor:
Richie Khanna, Allan C Powe, Yi Lun, Rebecca Soska, Jessie Feng, Rohini Dhulipala, Michelle Frascella, Anadina Garcia, Lee J Pellegrino, Su Xu, Nastry Brignol, Matthew J Toth, Hung V Do, David J Lockhart, Brandon A Wustman, Kenneth J Valenzano
Publikováno v:
PLoS ONE, Vol 9, Iss 7, p e102092 (2014)
Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene. Pompe disease is characterized by accumulation of lysosomal glycogen primarily in heart an
Externí odkaz:
https://doaj.org/article/72b07734ee0446d5b4528055bccd9d8a
Autor:
Yi Lun, Anju Nair, Anadina Garcia, Jessie Feng, Kenneth J. Valenzano, Tuske Steven, Rosa Puertollano, Richie Khanna, Michelle Frascella, Su Xu, Russell Gotschall, Jose A. Martina, Maria Cecilia Della Valle, Evelyn Ralston, Adriane Schilling, Hung V. Do, Nina Raben, Abdul S. Ponery, Rebecca Soska
Publikováno v:
JCI Insight. 4
Pompe disease is a rare inherited disorder of lysosomal glycogen metabolism due to acid α-glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) using alglucosidase alfa, a recombinant human GAA (rhGAA), is the only approved treatment for Po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f12ff3199f2c555ef7abb754419f457
https://doi.org/10.1172/jci.insight.125358
https://doi.org/10.1172/jci.insight.125358
Autor:
Suresh Venkateswaran, Nicholas Siano, Jill M. Weimer, Nickita Mehta, Renee Krampetz, Nithya Selvan, Hung V. Do, Jon Brudvig, Yuliya McAnany, Finn Hung, Anuj Mehta, Matthew Graziano, Matthew Madrid, Russell Gotschall, M. Osman Sheikh, Nastry Brignol
Publikováno v:
The Journal of Biological Chemistry
Acid alpha-glucosidase (GAA) is a lysosomal glycogen-catabolizing enzyme, the deficiency of which leads to Pompe disease. Pompe disease can be treated with systemic recombinant human GAA (rhGAA) enzyme replacement therapy (ERT), but the current stand
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::429632d0e97ca7f629eca76ebefcadf1
https://doi.org/10.1016/j.jbc.2021.100769
https://doi.org/10.1016/j.jbc.2021.100769
Publikováno v:
Annals of Translational Medicine. 7:291-291
Pompe disease is a rare inherited metabolic disorder of defective lysosomal glycogen catabolism due to a deficiency in acid alpha-glucosidase (GAA). Alglucosidase alfa enzyme replacement therapy (ERT) using recombinant human GAA (rhGAA ERT) is the on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02065b24fc8fba0086fe6b80ee72ba86
https://doi.org/10.21037/atm.2019.04.15
https://doi.org/10.21037/atm.2019.04.15
Autor:
Jessie Feng, Yi Lun, Russell Gotschall, Hung V. Do, Rebecca Soska, Michelle Frascella, Anju Nair, Richie Khanna, A. Ponery, Ana Cristina Bicharra Garcia, Su Xu, C. Della Valle, Kenneth J. Valenzano
Publikováno v:
Neuromuscular Disorders. 28:S136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6f632a7722e0d10fd0bd6754777be63
https://doi.org/10.1016/j.nmd.2018.06.400
https://doi.org/10.1016/j.nmd.2018.06.400
Autor:
Jessie Feng, Kenneth J. Valenzano, A. Ponery, Anju Nair, Richie Khanna, Yi Lun, Michelle Frascella, Hung V. Do, Rebecca Soska, Ana Cristina Bicharra Garcia, Adriane Schilling, Russell Gotschall, Su Xu, C. Della Valle
Publikováno v:
Neuromuscular Disorders. 27:S161
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab6b52d38beda88a304ff62b49fe859f
https://doi.org/10.1016/j.nmd.2017.06.247
https://doi.org/10.1016/j.nmd.2017.06.247
Autor:
Kenneth J. Valenzano, Richie Khanna, Rohini Dhulipala, Nastry Brignol, Yi Lun, David J. Lockhart, Su Xu, Hung V. Do, Rebecca Soska, Michelle Frascella, Brandon Wustman, Jessie Feng, Lee Pellegrino, Anadina Garcia, Matthew J. Toth, Allan C. Powe
Publikováno v:
PLoS ONE
PLoS ONE, Vol 9, Iss 7, p e102092 (2014)
PLoS ONE, Vol 9, Iss 7, p e102092 (2014)
Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene. Pompe disease is characterized by accumulation of lysosomal glycogen primarily in heart an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69b00c6eba47c4a8cfa1defe00506616
https://pubmed.ncbi.nlm.nih.gov/25036864
https://pubmed.ncbi.nlm.nih.gov/25036864
Autor:
Elfrida R. Benjamin, Maria Rosaria Tuzzi, Katherine Tang, Kenneth J. Valenzano, John J. Flanagan, Federica Fontana, Maria Vittoria Cubellis, David J. Lockhart, Generoso Andria, Giancarlo Parenti, Xiaoyang Wu, Kirsten Mascioli, Hung V. Do, Caterina Porto, Barbara Rossi, Francesca Donaudy
Pompe disease is a lysosomal storage disorder (LSD) caused by mutations in the gene that encodes acid α-glucosidase (GAA). Recently, small molecule pharmacological chaperones have been shown to increase protein stability and cellular levels for muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd84acecf5435c7673539e9195ad7913
http://hdl.handle.net/11588/364715
http://hdl.handle.net/11588/364715
Autor:
Hung V. Do, T. Voit, Urmi Bandyopadhyay, Allan C. Powe, David J. Lockhart, Ana Maria Cuervo, Ashish C. Massey, Brandon Wustman, Kwang-Ting Cheng
Publikováno v:
Neuromuscular Disorders. 18:801-802
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::953b0ac043938a8c55d8b4b077f4ef98
https://doi.org/10.1016/j.nmd.2008.06.267
https://doi.org/10.1016/j.nmd.2008.06.267
Autor:
Allan C. Powe, C.W. Pine, R. Dhulipala, David J. Lockhart, E. Smith, Kenneth J. Valenzano, Elfrida R. Benjamin, Xiaoyang Wu, Richie Khanna, W. Liang, Hung V. Do, Rebecca Soska, John J. Flanagan, Brandon Wustman
Publikováno v:
Neuromuscular Disorders. 17:889-890
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b43c5b3b046ba61577241b094181588c
https://doi.org/10.1016/j.nmd.2007.06.426
https://doi.org/10.1016/j.nmd.2007.06.426