Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Karlaina J.L. Osmon"'
Autor:
Alex E. Ryckman, Natalie M. Deschenes, Brianna M. Quinville, Karlaina J.L. Osmon, Melissa Mitchell, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101168- (2024)
The pathological accumulation of GM2 ganglioside associated with Tay-Sachs disease (TSD) and Sandhoff disease (SD) occurs in individuals who possess mutant forms of the heterodimer β-hexosaminidase A (Hex A) because of mutation of the HEXA and HEXB
Externí odkaz:
https://doaj.org/article/bc193c876a02476880176551e4687473
Autor:
Evan Woodley, Karlaina J.L. Osmon, Patrick Thompson, Christopher Richmond, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 12, Iss , Pp 47-57 (2019)
GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene, r
Externí odkaz:
https://doaj.org/article/81b1255349f54990b54a557a880e9f60
Autor:
Cliff Heindel, Karlaina J.L. Osmon, Evan Woodley, John G. Keimel, Patrick Thompson, Subha Karumuthil-Melethil, William F. Kaemmerer, Jagdeep S. Walia, Steven J. Gray
Publikováno v:
Current Gene Therapy. 22:262-276
Background: GM2 gangliosidosis is a neurodegenerative, lysosomal storage disease caused by the deficiency of β-hexosaminidase A enzyme (Hex A), an α/β-subunit heterodimer. A novel variant of the human hexosaminidase α-subunit, coded by HEX M, has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9733bb70f07b3fa57ffcce8720e2527
https://doi.org/10.2174/1566523221666210916153051
https://doi.org/10.2174/1566523221666210916153051
Autor:
Karlaina J.L. Osmon, Patrick Thompson, Evan Woodley, Jagdeep S. Walia, Steven J. Gray, Zhilin Chen, Christopher R. Richmond
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 12, Iss, Pp 47-57 (2019)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene, r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74028ada8bb6d3a886f0a43d82590ab3
http://www.sciencedirect.com/science/article/pii/S2329050118301074
http://www.sciencedirect.com/science/article/pii/S2329050118301074
Autor:
Patrick Thompson, Karlaina J.L. Osmon, Evan Woodley, Jagdeep S. Walia, Steven J. Gray, Subha Karumuthil-Melethil
Publikováno v:
Molecular Therapy. 24:S145-S146
GM2 gangliosidosis disorders stem from a Hexosaminidase A (HexA) isoenzyme deficiency. In humans, HexA is the sole enzyme able to catabolize GM2 ganglioside (GM2). The inability to effectively catabolize GM2 leads to neurodegeneration of the central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61d3d126eca0d265a5f98d887eb05a39
https://doi.org/10.1016/s1525-0016(16)33172-0
https://doi.org/10.1016/s1525-0016(16)33172-0
Autor:
Katalina Ong, Evan Woodley, Patrick Thompson, Steven J. Gray, Subha Karumuthil-Melethil, Jagdeep S. Walia, Brian L. Mark, Don J. Mahuran, Karlaina J.L. Osmon
Publikováno v:
Molecular Therapy. 23:S283-S284
GM2 gangliosidosis is a group of neurodegenerative disorders, characterized by the malfunctioning Hexosaminidase A (HexA) enzyme, for which there is no treatment. HexA is composed of two similar, but non-identical subunits, the alpha and the beta, wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18b9963448d268cb05a5fead39a6bcf4
https://doi.org/10.1016/s1525-0016(16)34320-9
https://doi.org/10.1016/s1525-0016(16)34320-9
Autor:
Karlaina J.L. Osmon, Subha Karumuthil-Melethil, Patrick Thompson, Steven J. Gray, Jagdeep S. Walia, Evan Woodley
Publikováno v:
Molecular Therapy. 24:S286
GM2 gangliosidoses are a group of neurodegenerative disorders, characterized by the malfunctioning Hexosaminidase A (HexA) enzyme. HexA is formed by heterodimerization of two subunits, α and β. Hex A, in interaction with GM2 activator protein (GM2A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14604988e842912b0683cc62290a367f
https://doi.org/10.1016/s1525-0016(16)33533-x
https://doi.org/10.1016/s1525-0016(16)33533-x
Autor:
Karlaina J.L. Osmon, Subha Karumuthil-Melethil, Patrick Thompson, Evan Woodley, Steven J. Gray, Jagdeep S. Walia
Publikováno v:
Molecular Therapy. 24:S221
GM2 gangliosidoses is a group of neurodegenerative lysosomal storage disorders caused by deficiency in the β-hexosaminidase A (HexA) enzyme. HexA is a heterodimer composed of 2 subunits; α- (encoded by the HEXA gene) and β-hexosaminidase β (Encod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bfbf1459bfc3d24bbc36550c20d5389d
https://doi.org/10.1016/s1525-0016(16)33359-7
https://doi.org/10.1016/s1525-0016(16)33359-7
Autor:
Karlaina J.L. Osmon, Patrick Thompson, Katalina Ong, Don J. Mahuran, Evan Woodley, Steven J. Gray, Jagdeep S. Walia, Subha Karumuthil-Melethil, Brian L. Mark
Publikováno v:
Journal of Medical Genetics. 52:A4.2-A4
Background G M2 gangliosidosis is a group of neurodegenerative disorders, characterised by the malfunctioning HexosaminidaseA (HexA) enzyme, for which there is no treatment. HexA is composed of two similar, but non-identical subunits, alpha and beta,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc67ebbda41e65f75a5c6e4bb0452b60
https://doi.org/10.1136/jmedgenet-2015-103578.10
https://doi.org/10.1136/jmedgenet-2015-103578.10