Article
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Clinical genetics - 1 May 2021
Al-Fadhli Fatima M, Afqi Manal, Sairafi Mona Hamza, Almuntashri Makki, Alharby Essa, Alharbi Ghadeer, Abdud Samad Firoz, Hashmi Jamil Amjad, Zaytuni Dimah, Bahashwan Ahmed A, Choi Jin Huk, Peake Roy W A, Beutler Bruce, Almontashiri Naif A M
Abstract excerpt
Protein disulfide isomerase A6 (PDIA6) is an unfolded protein response (UPR)-regulating protein. PDIA6 regulates the UPR sensing proteins, Inositol requiring enzyme 1, and EIF2AK3. Biallelic inactivation of the two genes in mice and humans resulted in embryonic lethality, diabetes, skeletal defects, and renal insufficiency. We recently showed that PDIA6 inactivation in mice caused embryonic and early lethality,...
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