Article
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
The Journal of clinical investigation - 1 Dec 2020
De Franco Elisa, Lytrivi Maria, Ibrahim Hazem, Montaser Hossam, Wakeling Matthew N, Fantuzzi Federica, Patel Kashyap, Demarez Céline, Cai Ying, Igoillo-Esteve Mariana, Cosentino Cristina, Lithovius Väinö, Vihinen Helena, Jokitalo Eija, Laver Thomas W, Johnson Matthew B, Sawatani Toshiaki, Shakeri Hadis, Pachera Nathalie, Haliloglu Belma, Ozbek Mehmet Nuri, Unal Edip, Yıldırım Ruken, Godbole Tushar, Yildiz Melek, Aydin Banu, Bilheu Angeline, Suzuki Ikuo, Flanagan Sarah E, Vanderhaeghen Pierre, Senée Valérie, Julier Cécile, Marchetti Piero, Eizirik Decio L, Ellard Sian, Saarimäki-Vire Jonna, Otonkoski Timo, Cnop Miriam, Hattersley Andrew T
Abstract excerpt
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in β cells. We identified 6 patients from 5 families with homozygous mutations in the YIPF5 gene, which is involved in trafficking between the endoplasmic reticulum (ER) and the Golgi. All patients...
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