Comparative analysis of SEC61A1 mutant R236C in two patient-derived cellular platforms

Abstract SEC61A1 encodes a central protein of the mammalian translocon and dysfunction results in severe disease. Recently, mutation R236C was identified in patients having autosomal dominant polycystic liver disease (ADPLD). The molecular phenotype of R236C was assessed in two cellular platforms. C...

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Principais autores:	Matthias Weiand, Vanessa Sandfort, Oksana Nadzemova, Robert Schierwagen, Jonel Trebicka, Bernhard Schlevogt, Iyad Kabar, Hartmut Schmidt, Andree Zibert
格式:	Artigo
语言:	Inglês
出版:	Nature Portfolio 2024-04-01
丛编:	Scientific Reports
在线阅读:	https://doi.org/10.1038/s41598-024-59033-3
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