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Title: Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.
Authors: Jen, JC
Chan, WM
Bosley, TM
Wan, J
Carr, JR
Rüb, U
Shattuck, D
Salamon, G
Kudo, LC
Ou, J
Lin, DD
Salih, MA
Kansu, T
Al Dhalaan H
Al Zayed Z
MacDonald, DB
Stigsby, B
Plaitakis, A
Dretakis, EK
Gottlob, I
Pieh, C
Traboulsi, EI
Wang, Q
Wang, L
Andrews, C
Yamada, K
Demer, JL
Karim, S
Alger, JR
Geschwind, DH
Deller, T
Sicotte, NL
Nelson, SF
Baloh, RW
Engle, EC
First Published: 4-Jun-2004
Citation: SCIENCE, 2004, 304 (5676), pp. 1509-1513
Abstract: The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients with horizontal gaze palsy with progressive scoliosis (HGPPS). In patients affected with HGPPS, we identified mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse. Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing.
DOI Link: 10.1126/science.1096437
eISSN: 1095-9203
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Cardiovascular Sciences

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