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- W4286610770 abstract "Identification of the molecular basis of rare metabolic diseases continues to enrich our understanding of the ever-widening role of lysosomes in cellular function and homeostasis. This chapter surveys recently characterized lysosomal diseases, which reveal specialized activities of the organelle that are critical for the development of the senses, resistance to microbial infection, and the recognition of self- and non-self in the innate immune response. Cathepsins may be secreted from certain cells for specific functions such as turnover of the extracellular matrix. Mutations in the arylsulphatase G gene lead to a neuronal ceroid lipofuscinosis variant in dogs. Usher syndrome is classified into subtypes related to the age of onset and severity of hearing loss with or without vestibular involvement; visual loss is also varible, ranging from complete blindness to impaired night vision only. Several distinct organelles with specialized functions closely resemble lysosomes and are known as lysosome-related organelles." @default.
- W4286610770 created "2022-07-22" @default.
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- W4286610770 date "2022-07-21" @default.
- W4286610770 modified "2023-10-16" @default.
- W4286610770 title "Miscellaneous Disorders of the Lysosome" @default.
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- W4286610770 doi "https://doi.org/10.1002/9781119697312.ch23" @default.
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