Výsledky vyhledávání - "Paul W. Bigg"

Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afcfa463eeb8859257d930973da64ded
https://doi.org/10.1016/j.ymgme.2013.06.013

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The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6667693364f0b6497988b71f876c4df
https://doi.org/10.1016/j.ymgme.2013.06.015

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Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression

Autor: Meg M. Sleeper, Michael P. Whyte, Katherine P. Ponder, Susan Wu, Patricia O'Donnell, Bruce Linders, Mark E. Haskins, Paul W. Bigg, Jason A. Metcalf

Publikováno v: Molecular genetics and metabolism. 99(4)

Mucopolysaccharidosis I (MPS I) and MPS VII are due to loss-of-function mutations within the genes that encode the lysosomal enzymes alpha-l-iduronidase and beta-glucuronidase, respectively, and result in accumulation of glycosaminoglycans and multis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf59246bcecaa9dd770dd4594a3a7f1
https://pubmed.ncbi.nlm.nih.gov/20044292

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