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

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

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...

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Bibliographic Details
Main Authors: Sarah M. Carpanini, Lisa McKie, Derek Thomson, Ann K. Wright, Sarah L. Gordon, Sarah L. Roche, Mark T. Handley, Harris Morrison, David Brownstein, Thomas M. Wishart, Michael A. Cousin, Thomas H. Gillingwater, Irene A. Aligianis, Ian J. Jackson
Format: Article
Language:English
Published: The Company of Biologists 2014-06-01
Series:Disease Models & Mechanisms
Subjects:
Warburg Micro syndrome
Cataract
Neurofilament
Online Access:http://dmm.biologists.org/content/7/6/711

Internet

http://dmm.biologists.org/content/7/6/711

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