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Genotype-phenotype correlations
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A new seipin-associated neurodegenerative syndrome
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  • Published on: 27 April 2016
    C-terminus truncation of Seipin as a good potential sign of diseases

    C-terminus truncation of Seipin as a good potential sign of diseases

    Wei-Li Yu and Yun Sun

    Seipin is a transmembrane protein of the endoplasmic reticulum with N, C-terminus residing the intracytoplasmic side.1 2 Loss of Seipin function has been shown to lead to severe lipodystrophy, motor neuropathy and silver syndrome.3 However, its molecular mechanism is still unknown. Recently Guillén-Navarro E et al 4...

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    Conflict of Interest:
    None declared.