Ontology highlight
ABSTRACT:
SUBMITTER: Hu M
PROVIDER: S-EPMC10321293 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Hu Min M Bodnar Brittany B Zhang Yonggang Y Xie Fangxin F Li Fang F Li Siying S Zhao Jin J Zhao Ruotong R Gedupoori Naveen N Mo Yifan Y Lin Lanyi L Li Xue X Meng Wentong W Yang Xiaofeng X Wang Hong H Barbe Mary F MF Srinivasan Shanthi S Bethea John R JR Mo Xianming X Xu Hong H Hu Wenhui W
International journal of biological sciences 20230619 10
Loss of function in transport protein particles (TRAPP) links a new set of emerging genetic disorders called "TRAPPopathies". One such disorder is NIBP syndrome, characterized by microcephaly and intellectual disability, and caused by mutations of <i>NIBP/TRAPPC9</i>, a crucial and unique member of TRAPPII. To investigate the neural cellular/molecular mechanisms underlying microcephaly, we developed Nibp/Trappc9-deficient animal models using different techniques, including morpholino knockdown a ...[more]