A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

• Main Authors: Sarah M. Carpanini (Author), Lisa McKie (Author), Derek Thomson (Author), Ann K. Wright (Author), Sarah L. Gordon (Author), Sarah L. Roche (Author), Mark T. Handley (Author), Harris Morrison (Author), David Brownstein (Author), Thomas M. Wishart (Author), Michael A. Cousin (Author), Thomas H. Gillingwater (Author), Irene A. Aligianis (Author), Ian J. Jackson (Author)
• Format: Book
• Published: The Company of Biologists, 2014-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mutations in RAB18 have been shown to cause the heterogeneous autosomal recessive disorder Warburg Micro syndrome (WARBM). Individuals with WARBM present with a range of clinical symptoms, including ocular and neurological abnormalities. However, the underlying cellular and molecular pathogenesis of...