Article
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
Proceedings of the National Academy of Sciences of the United States of America - 26 Jul 2011
Pak Changhui, Garshasbi Masoud, Kahrizi Kimia, Gross Christina, Apponi Luciano H, Noto John J, Kelly Seth M, Leung Sara W, Tzschach Andreas, Behjati Farkhondeh, Abedini Seyedeh Sedigheh, Mohseni Marzieh, Jensen Lars R, Hu Hao, Huang Brenda, Stahley Sara N, Liu Guanglu, Williams Kathryn R, Burdick Sharon, Feng Yue, Sanyal Subhabrata, Bassell Gary J, Ropers Hans-Hilger, Najmabadi Hossein, Corbett Anita H, Moberg Kenneth H, Kuss Andreas W
Abstract excerpt
Here we report a human intellectual disability disease locus on chromosome 14q31.3 corresponding to mutation of the ZC3H14 gene that encodes a conserved polyadenosine RNA binding protein. We identify ZC3H14 mRNA transcripts in the human central nervous system, and we find that rodent ZC3H14 protein is expressed in hippocampal neurons and colocalizes with poly(A) RNA in neuronal cell bodies. A Drosophila...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.