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SialidaseNeu3action on GM1 ganglioside is neuroprotective in GM1 Gangliosidosis
GM1 gangliosidosis is a neurodegenerative disorder caused by mutations in theGLB1gene, which encodes lysosomalb-galactosidase. The enzyme deficiency blocks GM1 ganglioside catabolism, leading to accumulation of GM1 ganglioside and asialo-GM1 ganglioside (GA1 glycolipid) in brain. This disease can pr...
ORGANISM(S): Mus musculus 
2023-12-14 | GSE241844 | GEO
Haploinsufficiency of GRN causes frontotemporal dementia (FTD). The GRN locus produces progranulin (PGRN), which is cleaved to lysosomal granulin polypeptides. The function of lysosomal granulins and why their absence causes neurodegeneration are unclear. Here we discover that PGRN-deficient human c...
ORGANISM(S): Homo sapiens (Human) 
2022-09-18 | PXD035889 | Pride
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