| Abstrakt: |
A recent study conducted at the Greenwood Genetics Center in South Carolina focused on understanding mucolipidoses, specifically mucolipidosis II and mucolipidosis III alpha/(3. The research utilized genetic and proteomic approaches to analyze GNPTAB-knockout DAOY medulloblastoma cells, revealing altered gene expression and cell surface glycoprotein abundance that may contribute to neurological issues in individuals with these disorders. The findings suggest a link between GNPTAB dysfunction and elevated levels of proteins associated with neurodegeneration, shedding light on the pathogenesis of lysosomal diseases and their neurological manifestations. [Extracted from the article] |
