EMBO molecular medicine
A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.
Yue Tong, Marianne Becker, Ulrike Schierloh, Flávia Natividade da Silva, Leena Haataja, Ying Cai, Kashyap A Patel, Farah Kobaisi, Uyenlinh L Mirshahi, Kevin Colclough, Muhammad Shabab Javed, Matthew N Wakeling, Federica Fantuzzi, Maria Lytrivi, Toshiaki Sawatani
Published: 202610.1038/s44321-025-00362-9
Abstract
The INS c.16 C > T (insulin p.Arg6Cys, R6C) variant was reported to cause autosomal dominant monogenic diabetes, yet its pathogenicity has been questioned. R6C preproinsulin exhibits impaired translocation into the endoplasmic reticulum (ER). We expl…
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