Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Steven Q. Le"'
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:
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
Autor:
Hemanth R. Nelvagal, Samantha L. Eaton, Sophie H. Wang, Elizabeth M. Eultgen, Keigo Takahashi, Steven Q. Le, Rachel Nesbitt, Joshua T. Dearborn, Nicholas Siano, Ana C. Puhl, Patricia I. Dickson, Gerard Thompson, Fraser Murdoch, Paul M. Brennan, Mark Gray, Stephen N. Greenhalgh, Peter Tennant, Rachael Gregson, Eddie Clutton, James Nixon, Chris Proudfoot, Stefano Guido, Simon G. Lillico, C. Bruce A. Whitelaw, Jui-Yun Lu, Sandra L. Hofmann, Sean Ekins, Mark S. Sands, Thomas M. Wishart, Jonathan D. Cooper
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 20 (2022)
CLN1 disease, also called infantile neuronal ceroid lipofuscinosis (NCL) or infantile Batten disease, is a fatal neurodegenerative lysosomal storage disorder resulting from mutations in the CLN1 gene encoding the soluble lysosomal enzyme palmitoyl-pr
Externí odkaz:
https://doaj.org/article/fb7adb2cd6174d5a9c38555ece25def7
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
Autor:
Brett E. Crawford, Mark S. Sands, Ibrahim Elsharkawi, Steven Q. Le, Patricia I. Dickson, Jonathan D. Cooper, Linley Mangini, Roger Lawrence, Shih-hsin Kan, Heather Prill
Publikováno v:
Mol Genet Metab
Mucopolysaccharidosis IIIB (MPS IIIB, Sanfilippo syndrome type B) is caused by a deficiency in α-N-acetylglucosaminidase (NAGLU) activity, which leads to the accumulation of heparan sulfate (HS). MPS IIIB causes progressive neurological decline, wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236cda32bdff62621fb55d1bf4f55e9b
https://doi.org/10.1016/j.ymgme.2021.03.013
https://doi.org/10.1016/j.ymgme.2021.03.013
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
Sanfilippo syndrome type B (Mucopolysaccharidosis type IIIB or MPS IIIB) is a recessive genetic disorder that severely affects the brain due to a deficiency in the enzyme α-N-acetylglucosaminidase (NAGLU), leading to intralysosomal accumulation of p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0291867037a3af9b333959e73610963a
https://doi.org/10.1101/2022.06.30.498131
https://doi.org/10.1101/2022.06.30.498131
Autor:
Shan Li, Sean Ekins, Feng Wang, Steven Q. Le, Tsui-Fen Chou, Chelsee Sauni, Brett Lomenick, Xiaoyi Zhang, Patricia I. Dickson, Shih Hsin Kan, Srikanth Singamsetty, Jill Wood, Derek R. Moen
Publikováno v:
Molecular Pharmaceutics. 18:214-227
There is currently no cure or effective treatment available for mucopolysaccharidosis type IIID (MPS IIID, Sanfilippo syndrome type D), a lysosomal storage disorder (LSD) caused by the deficiency of α-N-acetylglucosamine-6-sulfatase (GNS). The clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd63ec9bdd3841a50bd5fb7d1ce7212f
https://doi.org/10.1021/acs.molpharmaceut.0c00831
https://doi.org/10.1021/acs.molpharmaceut.0c00831
Autor:
Sarah Hurt, Steven Q. Le, Samir Mendonça, Alexander Sorensen, David T. Curiel, Patricia I. Dickson
Publikováno v:
Molecular Genetics and Metabolism. 138:107161
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53322fc9c665bc4a68e9bbc5d191829d
https://doi.org/10.1016/j.ymgme.2022.107161
https://doi.org/10.1016/j.ymgme.2022.107161