Ontology highlight
ABSTRACT:
SUBMITTER: Choi JH
PROVIDER: S-EPMC7144532 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Choi Jin Huk JH Zhong Xue X Zhang Zhao Z Su Lijing L McAlpine William W Misawa Takuma T Liao Tzu-Chieh TC Zhan Xiaoming X Russell Jamie J Ludwig Sara S Li Xiaohong X Tang Miao M Anderton Priscilla P Moresco Eva Marie Y EMY Beutler Bruce B
The Journal of experimental medicine 20200401 4
In a forward genetic screen of N-ethyl-N-nitrosourea (ENU)-induced mutant mice for aberrant immune function, we identified mice with a syndromic disorder marked by growth retardation, diabetes, premature death, and severe lymphoid and myeloid hypoplasia together with diminished T cell-independent (TI) antibody responses. The causative mutation was in Pdia6, an essential gene encoding protein disulfide isomerase A6 (PDIA6), an oxidoreductase that functions in nascent protein folding in the endopl ...[more]