Article
Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis.
International journal of molecular sciences - 24 May 2023
Deschenes Natalie M, Cheng Camilyn, Ryckman Alex E, Quinville Brianna M, Khanal Prem, Mitchell Melissa, Chen Zhilin, Sangrar Waheed, Gray Steven J, Walia Jagdeep S
Abstract excerpt
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 (ABGM2) arises from loss-of-function mutations in the GM2 activator protein (GM2AP), which is essential for the breakdown of GM2 in a key catabolic pathway required for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.