Zobrazeno 1 - 5
of 5
pro vyhledávání: '"John G. Keimel"'
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:
Shalini Kot, Violeta Zaric, Patrick Thompson, John G. Keimel, Evan Woodley, Jagdeep S. Walia, Erik Lykken, William F. Kaemmerer, Subha Karumuthil-Melethil, Steven J. Gray, Zhilin Chen
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 13
International Journal of Molecular Sciences, Vol 22, Iss 6751, p 6751 (2021)
Volume 22
Issue 13
International Journal of Molecular Sciences, Vol 22, Iss 6751, p 6751 (2021)
GM2 gangliosidosis disorders are a group of neurodegenerative diseases that result from a functional deficiency of the enzyme β-hexosaminidase A (HexA). HexA consists of an α- and β-subunit
a deficiency in either subunit results in Tay–Sach
a deficiency in either subunit results in Tay–Sach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17e80b0fda0ab58b69ef98257471e945
Autor:
Patrick Thompson, Michael David Kaytor, Michael B. Tropak, Jagdeep S. Walia, John G. Keimel, Sahana Nagabhushan Kalburgi, Subha Karumuthil-Melethil, Brian L. Mark, Don J. Mahuran, Steven J. Gray
GM2 gangliosidosis is a family of three genetic neurodegenerative disorders caused by the accumulation of GM2 ganglioside (GM2) in neuronal tissue. Two of these are due to the deficiency of the heterodimeric (α–β), “A” isoenzyme of lysosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36beefde55a72fc28286189393911820
https://europepmc.org/articles/PMC5349231/
https://europepmc.org/articles/PMC5349231/
Autor:
Tina Billstrom, William F. Kaemmerer, John G. Keimel, Merry Passage, Rebecca Rose, Linnea Lentz
Publikováno v:
Molecular Genetics and Metabolism.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43673a5ecb5296d31da0232997f16811
https://doi.org/10.1016/j.ymgme.2007.08.037
https://doi.org/10.1016/j.ymgme.2007.08.037
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