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Enteric nervous system disease in neuronopathic lysosomal storage disorders
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作者 Ewa A.Ziołkowska Robert O.Heuckeroth jonathan d.cooper 《Neural Regeneration Research》 2026年第8期3537-3538,共2页
Lysosomal storage disorders and their impact upon the central nervous system:Lysosomal storage disorders(LSDs)are a group of over 70 rare inherited metabolic disorders(Platt et al.,2018).They are caused by dysfunction... Lysosomal storage disorders and their impact upon the central nervous system:Lysosomal storage disorders(LSDs)are a group of over 70 rare inherited metabolic disorders(Platt et al.,2018).They are caused by dysfunction of lysosomes,organelles that contain enzymes responsible for digesting macromolecules.In functional lysosomes,these enzymes break down complex substrates,and the resulting fragments are recycled.Individual LSDs are caused by mutations in genes that encode lysosomal enzymes or other proteins crucial for lysosome function(Platt et al.,2018). 展开更多
关键词 break down complex substratesand neuronopathic lysosomal storage disorders lysosomal storage disorders storage disorders lsds digesting macromoleculesin lysosomal enzymes enteric nervous system central nervous system
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