Epilepsy & Seizures
Hippocampal atrophy in epilepsy
Jun. 24, 2024
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Processing of lysosomal hydrolases in mucolipidosis II/III
In people with mucolipidosis II/III, defective GlcNAc-1-phosphotransferase is unable to phosphorylate lysosomal hydrolases in the cid-Golgi network. These hydrolases then leak to the extracellular matrix (ECM). The lack of these lysosomal hydrolases within lysosomes results in the accumulation of storage materials in the lysosomes and disruption of cellular metabolism. (Source: Khan SA, Tomatsu SC. Mucolipidoses overview: past, present, and future. Int J Mol Sci 2020;21[18]:6812. Adapted from: Velho RV, Harms FL, Danyukova T, et al. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: update on GNPTAB and GNPTG mutations. Hum Mutat 2019;40[7]:842-64. Creative Commons Attribution [CC BY] license. http://creativecommons.org/licenses/by/4.0.)