Ontology highlight
ABSTRACT:
SUBMITTER: Alves MM
PROVIDER: S-EPMC7297230 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Alves Maria M MM Burzynski Grzegorz G Delalande Jean-Marie JM Osinga Jan J van der Goot Annemieke A Dolga Amalia M AM de Graaff Esther E Brooks Alice S AS Metzger Marco M Eisel Ulrich L M UL Shepherd Iain I Eggen Bart J L BJ Hofstra Robert M W RM
Human molecular genetics 20100709 18
Goldberg-Shprintzen syndrome (GOSHS) is a rare clinical disorder characterized by central and enteric nervous system defects. This syndrome is caused by inactivating mutations in the Kinesin Binding Protein (KBP) gene, which encodes a protein of which the precise function is largely unclear. We show that KBP expression is up-regulated during neuronal development in mouse cortical neurons. Moreover, KBP-depleted PC12 cells were defective in nerve growth factor-induced differentiation and neurite ...[more]