Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

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...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2011-07, Vol.108 (30), p.12390-12395
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Sequence Animal models Animals Biological Sciences Brain Cell body Central nervous system Central Nervous System - physiology chromosome 14 Chromosome Mapping Chromosomes, Human, Pair 14 - genetics Cohort Studies Consanguinity Conserved Sequence Data processing disease models Drosophila Drosophila melanogaster Drosophila melanogaster - genetics Drosophila melanogaster - physiology Drosophila Proteins - genetics Drosophila Proteins - physiology Evolution, Molecular Female Flight Flight, Animal - physiology Gene Knockdown Techniques genes Genes, Recessive Genetic mutation Hippocampus Hippocampus - metabolism Human genetics Humans Insects Intellectual disability Intellectual Disability - genetics Iran loci Locomotion Male Mental retardation Messenger RNA Metazoa Models, Animal Molecular Sequence Data Mutation Nervous system Neurons Nuclear Proteins - genetics Nuclear Proteins - physiology Pedigree Polyadenylation Protein isoforms Proteins RNA RNA binding proteins RNA, Messenger - genetics RNA, Messenger - metabolism RNA-binding protein RNA-Binding Proteins - genetics RNA-Binding Proteins - physiology rodents Sequence Homology, Amino Acid Young Adult Zinc Fingers - genetics
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