Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Phillip A. Doerfler"'
Autor:
David D. Fuller, Amy Poirier, Barry J. Byrne, Phillip A. Doerfler, Lauren Vaught, Michael D. Sunshine, Brendan M. Doyle, Marda Jorgensen, Darin J. Falk, Sara M.F. Turner
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 194-203 (2019)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Pompe disease is caused by mutations in the gene encoding the lysosomal glycogen-metabolizing enzyme, acid-alpha glucosidase (GAA). Tongue myofibers and hypoglossal motoneurons appear to be particularly susceptible in Pompe disease. Here we used intr
Autor:
Jing Zeng, Byoung Y. Ryu, Kaitly J. Woodard, Stephanie Fowler, John F. Tisdale, Shengdar Q. Tsai, Jean-Yves Metais, Shondra M. Pruett-Miller, Cicera R. Lazzarotto, Yu Yao, Kevin Luk, Yuxuan Wu, Sagar Keriwala, Michael D. Neel, Daniel E. Bauer, Samuel T. Peters, S. Scott Perry, Scot A. Wolfe, Shaina N. Porter, Mitchell J. Weiss, Thiyagaraj Mayuranathan, Varun Katta, Naoya Uchida, Akshay Sharma, Matthew M. Hsieh, Devlin Shea, Phillip A. Doerfler
Publikováno v:
Blood Advances. 3:3379-3392
Induction of fetal hemoglobin (HbF) via clustered regularly interspaced short palindromic repeats/Cas9–mediated disruption of DNA regulatory elements that repress γ-globin gene (HBG1 and HBG2) expression is a promising therapeutic strategy for sic
Autor:
Jerlym S. Porter, Akshay Sharma, Yan Zheng, John F. Tisdale, Mitchell J. Weiss, Phillip A. Doerfler
Publikováno v:
J Clin Invest
Sickle cell disease (SCD) is a monogenic disorder characterized by recurrent episodes of severe bone pain, multi-organ failure, and early mortality. Although medical progress over the past several decades has improved clinical outcomes and offered cu
Autor:
Darin J. Falk, Roland W. Herzog, Adrian G. Todd, Barry J. Byrne, Phillip A. Doerfler, Sushrusha Nayak, Nathalie Clement
Publikováno v:
Human Gene Therapy. 27:43-59
Pompe disease is a progressive neuromuscular disorder caused by lysosomal accumulation of glycogen from a deficiency in acid alpha-glucosidase (GAA). Replacement of the missing enzyme is available by repeated protein infusions; however, efficacy is l
Autor:
Thiyagaraj Mayuranathan, Sagar Keriwala, Varun Katta, Kaitly J. Woodard, Stephanie Fowler, Mitchell J. Weiss, Jing Zeng, Yuxuan Wu, Yu Yao, S. Scott Perry, Kevin Luk, Samuel T. Peters, John F. Tisdale, Michael D. Neel, Cicera R. Lazzarotto, Byoung Y. Ryu, Jean-Yves Metais, Shengdar Q. Tsai, Naoya Uchida, Phillip A. Doerfler, Daniel E. Bauer, Matthew M. Hsieh, Devlin Shea, Akshay Sharma, Scot A. Wolfe, Shaina N. Porter, Shondra M. Pruett-Miller
Publikováno v:
Blood. 134:2066-2066
Induction of fetal hemoglobin (HbF, α2γ2) via genome editing-mediated disruption of DNA regulatory elements that repress expression of γ-globin genes (HBG1 and HBG2) is a promising therapeutic strategy for b-hemoglobinopathies including sickle cel
Autor:
Barry J. Byrne, Sushrusha Nayak, Phillip A. Doerfler, Laurence Morel, Manuela Corti, Roland W. Herzog
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 3, Iss C (2016)
Molecular Therapy: Methods & Clinical Development, Vol 3, Iss C (2016)
Enzyme and gene replacement strategies have developed into viable therapeutic approaches for the treatment of Pompe disease (acid α-glucosidase (GAA) deficiency). Unfortunately, the introduction of GAA and viral vectors encoding the enzyme can lead