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- W4239773977 abstract "Spinal muscular Atrophy (SMA) is caused by reduced levels of the SMN protein. In humans this is caused by loss of SMN1 and retention of SMN2. The challenge in modelling SMA, in either tissue culture cells or animals, is first to obtain the desired SMN levels equivalent to what is observed in SMA. Various models of SMA in tissue culture cells, invertebrates, and mammals have been created have been developed. The targets of SMN reduction that are most relevant for the pathogenesis of SMA and how the phenotype of SMA can be modified independent of SMN levels are two important questions that remain unanswered. Here the current in vitro and in vivo models of SMA are summarized." @default.
- W4239773977 created "2022-05-12" @default.
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- W4239773977 date "2017-03-01" @default.
- W4239773977 modified "2023-09-26" @default.
- W4239773977 title "In Vitro and In Vivo Models of Spinal Muscular Atrophy" @default.
- W4239773977 doi "https://doi.org/10.1093/med/9780199937837.003.0035" @default.
- W4239773977 hasPublicationYear "2017" @default.
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