Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Raymond Y Wang"'
Autor:
Caitlin C. Calhoun, Shih-Hsin Kan, Alexander E. Stover, Jerry F. Harb, Edwin S. Monuki, Raymond Y. Wang, Philip H. Schwartz
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 4, Pp 101367- (2024)
Mucopolysaccharidosis type I (MPS I) is a metabolic disorder characterized by a deficiency in α-l-iduronidase (IDUA), leading to impaired glycosaminoglycan degradation. Current approved treatments seek to restore IDUA levels via enzyme replacement t
Externí odkaz:
https://doaj.org/article/7785a09a000e4ac897e9e0385a6ef38f
Autor:
Allisandra K. Rha, Chloe L. Christensen, Shih-Hsin Kan, Jerry F. Harb, Perla Andrade-Heckman, Raymond Y. Wang
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103552- (2024)
GM1 gangliosidosis (GM1) is a rare autosomal recessive neurogenerative lysosomal storage disease characterized by deficiency of beta-galactosidase (β-gal) and intralysosomal accumulation of GM1 ganglioside and other glycoconjugates. Resources for GM
Externí odkaz:
https://doaj.org/article/880812615ab5428faeb1a6a7d2e2a102
Autor:
Omar Khalid, Moin U Vera, Philip L Gordts, N Matthew Ellinwood, Philip H Schwartz, Patricia I Dickson, Jeffrey D Esko, Raymond Y Wang
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150850 (2016)
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacem
Externí odkaz:
https://doaj.org/article/a494804913604253b36c3b9f8bf30827
Autor:
Calogera M Simonaro, Shunji Tomatsu, Tracy Sikora, Francyne Kubaski, Michael Frohbergh, Johana M Guevara, Raymond Y Wang, Moin Vera, Jennifer L Kang, Lachlan J Smith, Edward H Schuchman, Mark E Haskins
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153136 (2016)
We previously demonstrated the therapeutic benefits of pentosan polysulfate (PPS) in a rat model of mucopolysaccharidosis (MPS) type VI. Reduction of inflammation, reduction of glycosaminoglycan (GAG) storage, and improvement in the skeletal phenotyp
Externí odkaz:
https://doaj.org/article/725fb3187f894bb2bfef54ff8ca61086
Autor:
Chloe L. Christensen, Shih-Hsin Kan, Perla Andrade-Heckman, Allisandra K. Rha, Jerry F. Harb, Raymond Y. Wang
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102220- (2024)
Infantile-onset Pompe disease (IOPD) results from pathogenic variants in the GAA gene, which encodes acid α-glucosidase. The correction of pathogenic variants through genome editing may be a valuable one-time therapy for PD and improve upon the curr
Externí odkaz:
https://doaj.org/article/1802f059de1b4f2283683a1cc2af36e3
Autor:
Ankit K. Desai, Garima Shrivastava, Christina L. Grant, Raymond Y. Wang, Trevor D. Burt, Priya S. Kishnani
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionHigh sustained anti-rhGAA antibody titers (HSAT; ≥12,800) are directly linked to reduced efficacy of enzyme replacement therapy (ERT) and subsequent clinical deterioration in infantile-onset Pompe disease (IOPD). We have previously demo
Externí odkaz:
https://doaj.org/article/feaa2ff9617e4639b0282d4875ed2de3
Autor:
Jerry F. Harb, Chloe L. Christensen, Shih-Hsin Kan, Allisandra K. Rha, Perla Andrade-Heckman, Laura Pollard, Richard Steet, Jeffrey Y. Huang, Raymond Y. Wang
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 34, Iss , Pp 102022- (2023)
Free sialic acid storage disorders (FSASDs) result from pathogenic variations in the SLC17A5 gene, which encodes the lysosomal transmembrane protein sialin. Loss or deficiency of sialin impairs FSA transport out of the lysosome, leading to cellular d
Externí odkaz:
https://doaj.org/article/9f2bdbea600d469e85d806bd6c11c8c8
Autor:
Adriana M. Montaño, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Antonio Nino Ramirez, Lin Zhang, Deborah Marsden, Raymond Y. Wang, Paul Harmatz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100987- (2023)
Objective: This study assessed growth patterns in patients with mucopolysaccharidosis (MPS) VII before enzyme replacement therapy. Methods: Height, weight, and body mass index (BMI) measurements and Z-scores from patients from three clinical studies
Externí odkaz:
https://doaj.org/article/68199889bc9745e98000b49f745e7638
Autor:
An N. Dang Do, Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam, Rhonda E. Schnur, Katrina Allis, Hana Hansikova, Nina Ondruskova, Shawn D. O'Connor, Amarilis Sanchez‐Valle, Arve Vollo, Raymond Y. Wang, Zoe Wolfenson, John Perreault, Daniel S. Ory, Hudson H. Freeze, J. Lawrence Merritt, Forbes D. Porter
Publikováno v:
Journal of inherited metabolic disease, vol 46, iss 2
J Inherit Metab Dis
J Inherit Metab Dis
Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multi-systemic manifestations. Plasma bile acid and N-palmitoy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1fe60093ec40cb5561491e1ea6d777
https://escholarship.org/uc/item/39n7s551
https://escholarship.org/uc/item/39n7s551
Autor:
Shih-hsin Kan, Jeffrey Y. Huang, Jerry Harb, Allisandra Rha, Nancy D. Dalton, Chloe Christensen, Yunghang Chan, Jeremy Davis-Turak, Jonathan Neumann, Raymond Y. Wang
Publikováno v:
Scientific reports, vol 12, iss 1
Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant, the m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d6c813e25c70d852eaa80940592419
https://escholarship.org/uc/item/6qh1q5zp
https://escholarship.org/uc/item/6qh1q5zp