{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:22:02Z","timestamp":1790976122465,"version":"4.1.0"},"reference-count":36,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2016,11,17]],"date-time":"2016-11-17T00:00:00Z","timestamp":1479340800000},"content-version":"vor","delay-in-days":2323,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Graduate School of Medical Sciences"},{"name":"Jan Kornelis de Cock Stichting"},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Goldberg\u2013Shprintzen 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 outgrowth, suggesting that KBP is required for cell differentiation and neurite development. To identify KBP interacting proteins, we performed a yeast two-hybrid screen and found that KBP binds almost exclusively to microtubule associated or related proteins, specifically SCG10 and several kinesins. We confirmed these results by validating KBP interaction with one of these proteins: SCG10, a microtubule destabilizing protein. Zebrafish studies further demonstrated an epistatic interaction between KBP and SCG10 in vivo . To investigate the possibility of direct interaction between KBP and microtubules, we undertook co-localization and in vitro binding assays, but found no evidence of direct binding. Thus, our data indicate that KBP is involved in neuronal differentiation and that the central and enteric nervous system defects seen in GOSHS are likely caused by microtubule-related defects.<\/jats:p>","DOI":"10.1093\/hmg\/ddq280","type":"journal-article","created":{"date-parts":[[2010,7,11]],"date-time":"2010-07-11T22:04:50Z","timestamp":1278885890000},"page":"3642-3651","source":"Crossref","is-referenced-by-count":40,"title":["KBP interacts with SCG10, linking Goldberg\u2013Shprintzen syndrome to microtubule dynamics and neuronal differentiation"],"prefix":"10.1093","volume":"19","author":[{"given":"Maria M.","family":"Alves","sequence":"first","affiliation":[{"name":"Department of Genetics , University Medical Center Groningen, University of Groningen , PO Box 30.001, 9700 RB Groningen , The Netherlands ,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grzegorz","family":"Burzynski","sequence":"first","affiliation":[{"name":"Department of Biology , Emory University, Rollins Research Center , Room 1131, 1510 Clifton Road, Atlanta, GA 30322 , USA ,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marie","family":"Delalande","sequence":"first","affiliation":[{"name":"Department of Biology , Emory University, Rollins Research Center , Room 1131, 1510 Clifton Road, Atlanta, GA 30322 , USA ,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Osinga","sequence":"first","affiliation":[{"name":"Department of Genetics , University Medical Center Groningen, University of Groningen , PO Box 30.001, 9700 RB Groningen , The Netherlands ,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke","family":"van der Goot","sequence":"first","affiliation":[{"name":"Department of Genetics , University Medical Center Groningen, University of Groningen , PO Box 30.001, 9700 RB Groningen , The Netherlands ,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amalia M.","family":"Dolga","sequence":"first","affiliation":[{"name":"Department of Molecular Neurobiology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"de Graaff","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 50-60, 3015 GE Rotterdam , The Netherlands ,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice S.","family":"Brooks","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 50-60, 3015 GE Rotterdam , The Netherlands ,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Metzger","sequence":"first","affiliation":[{"name":"Translational Centre for Regenerative Medicine , University Leipzig, Philipp-Rosenthal-Strasse 55 , 04103 Leipzig , Germany ,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich L.M.","family":"Eisel","sequence":"first","affiliation":[{"name":"Department of Molecular Neurobiology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iain","family":"Shepherd","sequence":"first","affiliation":[{"name":"Department of Biology , Emory University, Rollins Research Center , Room 1131, 1510 Clifton Road, Atlanta, GA 30322 , USA ,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart J.L.","family":"Eggen","sequence":"first","affiliation":[{"name":"Department of Developmental Genetics, Faculty of Mathematics and Natural Sciences , University of Groningen , Kerklaan 30, 9751 NN Haren , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.W.","family":"Hofstra","sequence":"first","affiliation":[{"name":"Department of Genetics , University Medical Center Groningen, University of Groningen , PO Box 30.001, 9700 RB Groningen , The Netherlands ,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2010,7,9]]},"reference":[{"key":"2020070110540043900_DDQ280C1","first-page":"185","article-title":"Hirschsprung megacolon and cleft palate in two sibs","volume":"1","author":"Goldberg","year":"1981","journal-title":"J. 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