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KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation

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...

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Detalles Bibliográficos
Autores principales: Alves, Maria M., Burzynski, Grzegorz, Delalande, Jean-Marie, Osinga, Jan, van der Goot, Annemieke, Dolga, Amalia M., de Graaff, Esther, Brooks, Alice S., Metzger, Marco, Eisel, Ulrich L.M., Shepherd, Iain, Eggen, Bart J.L., Hofstra, Robert M.W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297230/
https://www.ncbi.nlm.nih.gov/pubmed/20621975
http://dx.doi.org/10.1093/hmg/ddq280