Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Shih Hsin Kan"'
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:
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101036- (2024)
Vascular involvement in the genetic disorder mucopolysaccharidosis type I (MPS I) has features of atherosclerotic disease near branch points of arterial vasculature, such as intimal thickening with disruption of the internal elastic lamina, and proli
Externí odkaz:
https://doaj.org/article/038276b28f0b410c9a9ebcfcdbebdecc
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:
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, Pp 1-13 (2022)
Abstract 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) varia
Externí odkaz:
https://doaj.org/article/23464ddf02a94fbeb809115494e48be1
Autor:
Yewande Pearse, Don Clarke, Shih-hsin Kan, Steven Q. Le, Valentina Sanghez, Anna Luzzi, Ivy Pham, Lina R. Nih, Jonathan D. Cooper, Patricia I. Dickson, Michelina Iacovino
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 452-463 (2022)
Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) is a recessive genetic disorder that severely affects the brain due to a deficiency in the enzyme α-N-acetylglucosaminidase (NAGLU), leading to intra-lysosomal accumulation of partially de
Externí odkaz:
https://doaj.org/article/776a0875754d4cc8976309f509235d55
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103117- (2023)
Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary to evaluate the efficacy o
Externí odkaz:
https://doaj.org/article/c612482487e44409bb7455683725df58
Autor:
Don Clarke, Yewande Pearse, Shih-hsin Kan, Steven Q. Le, Valentina Sanghez, Jonathan D. Cooper, Patricia I. Dickson, Michelina Iacovino
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 10, Iss , Pp 113-127 (2018)
Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB [MPS IIIB]) is a lysosomal storage disorder primarily affecting the brain that is caused by a deficiency in the enzyme α-N-acetylglucosaminidase (NAGLU), leading to intralysosomal accumulat
Externí odkaz:
https://doaj.org/article/a51965c026fa4337a9814a580dc89e80
Autor:
Steven Q. Le, Shih-hsin Kan, Don Clarke, Valentina Sanghez, Martin Egeland, Kristen N. Vondrak, Terence M. Doherty, Moin U. Vera, Michelina Iacovino, Jonathan D. Cooper, Mark S. Sands, Patricia I. Dickson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 8, Iss C, Pp 42-51 (2018)
Antibodies against recombinant proteins can significantly reduce their effectiveness in unanticipated ways. We evaluated the humoral response of mice with the lysosomal storage disease mucopolysaccharidosis type I treated with weekly intravenous reco
Externí odkaz:
https://doaj.org/article/458c35de4ec1464eb7de993788d68d45
Autor:
Shih-hsin Kan, Matthew J. Jansen, Jonathan D. Cooper, Keigo Takahashi, Patricia I. Dickson, Steven Q. Le
Publikováno v:
Molecular Genetics and Metabolism. 134:323-329
Sanfilippo D syndrome (mucopolysaccharidosis type IIID) is a lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-6-sulfatase (GNS). A mouse model was generated by constitutive knockout of the Gns gene. We studied affected mice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff9028ad173afa3536ae4f668b48de3
https://doi.org/10.1016/j.ymgme.2021.11.010
https://doi.org/10.1016/j.ymgme.2021.11.010