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Article

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

Scientific reports - 25 Apr 2024

Weiand Matthias, Sandfort Vanessa, Nadzemova Oksana, Schierwagen Robert, Trebicka Jonel, Schlevogt Bernhard, Kabar Iyad, Schmidt Hartmut, Zibert Andree

Abstract excerpt

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. Cells were immortalized by retroviral transduction of an oncogene (UCi) or reprogrammed to induced pluripotent stem cells...

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Identifiers

PMID: 38664472
DOI: 10.1038/s41598-024-59033-3
PMCID: PMC11045796

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