Search Results - "Fraites, T J"

Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors by MAH, C, CRESAWN, K. O, FRAITES, T. J, PACAK, C. A, LEWIS, M. A, ZOLOTUKHIN, I., BYRNE, B J

“…Glycogen storage disease type II (GSDII) is caused by a lack of functional lysosomal acid alpha-glucosidase (GAA). Affected individuals store glycogen in…”
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Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease by Pauly, D F, Fraites, T J, Toma, C, Bayes, H S, Huie, M L, Hirschhorn, R, Plotz, P H, Raben, N, Kessler, P D, Byrne, B J

“…Pompe disease is a lethal cardioskeletal myopathy in infants and results from genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Genetic…”
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Effect of altering filling pattern on Diastolic pressure-volume curve by FRAITES, T. J, SAEKI, A, KASS, D. A

“…The early-to-late ventricular filling ratio (E:A) is widely used to index diastolic function. While filling patterns reflect diastolic properties, they can…”
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Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II by Cresawn, Kerry O, Fraites, Thomas J, Wasserfall, Clive, Atkinson, Mark, Lewis, Melissa, Porvasnik, Stacy, Liu, Chen, Mah, Cathryn, Byrne, Barry J

“…Glycogen storage disease type II (GSDII) is a lysosomal storage disease caused by a deficiency in acid alpha-glucosidase (GAA), and leads to cardiorespiratory…”
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Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease by Rucker, Mary, Fraites, Jr, Thomas J, Porvasnik, Stacy L, Lewis, Melissa A, Zolotukhin, Irene, Cloutier, Denise A, Byrne, Barry J

“…Several human genetic diseases that affect striated muscle have been modeled by creating knockout mouse strains. However, many of these are perinatal lethal…”
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Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors by Zolotukhin, Sergei, Potter, Mark, Zolotukhin, Irene, Sakai, Yoshihisa, Loiler, Scott, Fraites, Thomas J, Chiodo, Vince A, Phillipsberg, Tina, Muzyczka, Nicholas, Hauswirth, William W, Flotte, Terance R, Byrne, Barry J, Snyder, Richard O

“…Recombinant adeno-associated viral (rAAV) vectors based on serotype 2 are currently being evaluated most extensively in animals and human clinical trials. rAAV…”
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Improved Method of Recombinant AAV2 Delivery for Systemic Targeted Gene Therapy by Mah, Cathryn, Fraites, Thomas J., Zolotukhin, Irene, Song, Sihong, Flotte, Terence R., Dobson, Jon, Batich, Christopher, Byrne, Barry J.

“…A major hurdle in most current gene therapy modalities is the ability to transduce target tissues at very high efficiencies that ultimately lead to therapeutic…”
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Correction of the Enzymatic and Functional Deficits in a Model of Pompe Disease Using Adeno-associated Virus Vectors by Fraites, Thomas J., Schleissing, Mary R., Shanely, R.Andrew, Walter, Glenn A., Cloutier, Denise A., Zolotukhin, Irene, Pauly, Daniel F., Raben, Nina, Plotz, Paul H., Powers, Scott K., Kessler, Paul D., Byrne, Barry J.

“…Pompe disease is a lysosomal storage disease caused by the absence of acid α-1,4 glucosidase (GAA). The pathophysiology of Pompe disease includes generalized…”
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A New Method for Recombinant Adeno-associated Virus Vector Delivery to Murine Diaphragm by Mah, Cathryn, Fraites, Thomas J, Cresawn, Kerry O, Zolotukhin, Irene, Lewis, Melissa A, Byrne, Barry J

“…Genetically modified mice are important models for evaluation of potential gene therapies for human diseases. However, their small size often precludes the use…”
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