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of 5
pro vyhledávání: '"Natalie M. Deschenes"'
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:
Natalie M. Deschenes, Camilyn Cheng, Prem Khanal, Brianna M. Quinville, Alex E. Ryckman, Melissa Mitchell, Alexey V. Pshezhetsky, Jagdeep S. Walia
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
AB-Variant GM2 gangliosidosis (ABGM2) is a rare and lethal genetic disorder caused by mutations in the GM2A gene that lead to fatal accumulation of GM2 gangliosides (GM2) in neurons of the central nervous system (CNS). GM2A encodes a transport protei
Externí odkaz:
https://doaj.org/article/5df49225961e460484ba2d40058f1c55
Autor:
Meera Vyas, Natalie M. Deschenes, Karlaina J. L. Osmon, Zhilin Chen, Imtiaz Ahmad, Shalini Kot, Patrick Thompson, Chris Richmond, Steven J. Gray, Jagdeep S. Walia
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 19, p 14611 (2023)
GM2 gangliosidoses are a group of neurodegenerative lysosomal storage disorders that are characterized by the accumulation of GM2 gangliosides (GM2), leading to rapid neurological decline and death. The hydrolysis of GM2 requires the specific synthes
Externí odkaz:
https://doaj.org/article/c76a3102e155479799c8bec55b9b6ac4
Autor:
Natalie M. Deschenes, Camilyn Cheng, Alex E. Ryckman, Brianna M. Quinville, Prem Khanal, Melissa Mitchell, Zhilin Chen, Waheed Sangrar, Steven J. Gray, Jagdeep S. Walia
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 11, p 9217 (2023)
GM2 gangliosidosis is a group of genetic disorders that result in the accumulation of GM2 ganglioside (GM2) in brain cells, leading to progressive central nervous system (CNS) atrophy and premature death in patients. AB-variant GM2 gangliosidosis (AB
Externí odkaz:
https://doaj.org/article/1911627c039c442b94dded2fff3ded7d
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 5793 (2021)
Sphingolipids are a specialized group of lipids essential to the composition of the plasma membrane of many cell types; however, they are primarily localized within the nervous system. The amphipathic properties of sphingolipids enable their particip
Externí odkaz:
https://doaj.org/article/f5cb68bc94ff4c109dabfd7260ceac79