Zobrazeno 1 - 10
of 124
pro vyhledávání: '"Katherine P. Ponder"'
Autor:
Katherine P. Ponder, Elizabeth P. Merricks, Lauren E. Wimsey, Denise E. Sabatino, Giang N. Nguyen, Timothy C. Nichols
Publikováno v:
Blood. 134:3628-3628
The hemophilia dog models are valuable for evaluating the efficacy of novel hemophilia therapeutics. The hemophilia B dog was predictive of the therapeutic dose of adeno-associated viral (AAV) vector delivery of human factor IX in clinical trials. In
Autor:
Eileen M. Shore, Patricia O'Donnell, Joseph A. Chiaro, Lachlan J. Smith, Katherine P. Ponder, Mark E. Haskins, Neil R. Malhotra
Publikováno v:
Journal of Bone and Mineral Research. 29:2610-2617
Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease characterized by deficient α-L-iduronidase activity, leading to the accumulation of poorly degraded glycosaminoglycans (GAGs). Children with MPS I exhibit high incidence of spine disease
Autor:
Katherine P. Ponder
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy. 21(5)
The American Society of Gene and Cell Therapy (ASGCT) is privileged to have many individuals who contribute to the Society in a variety of ways. Several of these will be recognized this year at the 16th Annual Meeting of the Society in May in Salt La
Autor:
Susan Wu, Roberto Giugliani, Patricia O'Donnell, Yuli Liu, Katherine P. Ponder, Hanqing Bai, Guilherme Baldo, Paul W. Bigg, Margret L. Casal, Mark E. Haskins, Meg M. Sleeper, Venkata Ram Pradeep Rokkam
Publikováno v:
Molecular Genetics and Metabolism. 110:319-328
Mucopolysaccharidosis VII (MPS VII) is due to the deficient activity of β-glucuronidase (GUSB) and results in the accumulation of glycosaminoglycans (GAGs) in lysosomes and multisystemic disease with cardiovascular manifestations. The goal here was
Autor:
Katherine P. Ponder, Susan Wu, Patricia O'Donnell, Paul W. Bigg, Yuli Liu, Meg M. Sleeper, Margret L. Casal, Mark E. Haskins
Publikováno v:
Molecular Genetics and Metabolism. 110:311-318
Mucopolysaccharidosis VII (MPS VII) is due to deficient activity of the lysosomal enzyme β-glucuronidase (GUSB) and results in the accumulation of glycosaminoglycans (GAGs). This study determined the long-term effect of neonatal intravenous injectio
Autor:
Lauren E. Wimsey, Katherine P. Ponder, Denise E. Sabatino, Timothy C. Nichols, Elizabeth P. Merricks, Giang N. Nguyen
Publikováno v:
Blood. 132:2453-2453
The hemophilia A (HA) dogs have been a valuable model for evaluating the efficacy of novel hemophilia therapeutics. These dogs have a mutation that is analogous to the most common mutation in humans with severe disease, the intron 22 inversion. The a
Autor:
Kevin K. Ohlemiller, Guilherme Baldo, Yanming Zhang, Katherine P. Ponder, David F. Wozniak, Roberto Giugliani
Publikováno v:
Journal of Inherited Metabolic Disease. 36:499-512
Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to α-L-iduronidase (IDUA) deficiency that results in the accumulation of glycosaminoglycans (GAG). Systemic gene therapy to MPS I mice can reduce lysosomal storage in the brain, but
Autor:
Katherine P. Ponder, Elizabeth A. Braunlin, Howard M. Rosenfeld, Beatriz Furlanetto, Christoph Kampmann, Roberto Giugliani, William C. Roberts, James P. Loehr, Paul Harmatz, Maurizio Scarpa
Publikováno v:
Journal of inherited metabolic disease, vol 34, iss 6
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ
Autor:
Alberto Auricchio, Katherine P. Ponder
Publikováno v:
Clinical & Experimental Ophthalmology. 38:43-51
Despite the availability of haematopoietic stem cell transplantation and the recent introduction of enzyme replacement therapy, the prevention and treatment of ocular manifestations in patients with mucopolysaccharidosis (MPS) remains a challenge. No
Autor:
Kevin K. Ohlemiller, Attila Kovacs, Li He, Douglas M. Tollefsen, Jason A. Metcalf, Axel Schambach, Xiucui Ma, Susan Wu, Bruce Linders, Katherine P. Ponder, Mark Bigg
Publikováno v:
Molecular Therapy. 18(2):334-342
Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to deficiency in alpha-L-iduronidase (IDUA) that results in accumulation of glycosaminoglycans (GAGs) throughout the body, causing numerous clinical defects. Intravenous administratio