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

DMM Disease Models and Mechanisms

Volumn 7, Issue 6, 2014, Pages 711-722

  Carpanini, Sarah M ^a,b   McKie, Lisa ^a   Thomson, Derek ^c   Wright, Ann K ^c   Gordon, Sarah L ^c   Roche, Sarah L ^c   Handley, Mark T ^a   Morrison, Harris ^a   Brownstein, David ^d   Wishart, Thomas M ^b,c   Cousin, Michael A ^c   Gillingwater, Thomas H ^c   Aligianis, Irene A ^a   Jackson, Ian J ^a,b  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Cataract; Neurofilament; Warburg micro syndrome

Indexed keywords

FAT DROPLET; MEMBRANE PROTEIN; MICROTUBULE PROTEIN; OLEIC ACID; PROTEIN RAB18; UNCLASSIFIED DRUG; RAB PROTEIN; RAB18 PROTEIN, MOUSE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATONIC PUPIL; AUTOSOMAL RECESSIVE DISORDER; CATARACT; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; CYTOSKELETON; DEGENERATIVE DISEASE; EYE DEVELOPMENT; FIBROBLAST; LIMB WEAKNESS; MOUSE; MOUSE MODEL; NEUROFILAMENT; NEUROMUSCULAR SYNAPSE; NONHUMAN; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEOMICS; PUPIL DISEASE; SIGNAL TRANSDUCTION; SYNAPSE VESICLE; WARBURG MICRO SYNDROME; ANIMAL; CORNEA; DISEASE MODEL; EYE; GENETICS; GROWTH, DEVELOPMENT AND AGING; HYPOGONADISM; INTELLECTUAL IMPAIRMENT; KNOCKOUT MOUSE; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; NERVE CELL; OPTIC NERVE ATROPHY; PATHOPHYSIOLOGY; PHYSIOLOGY;

ABNORMALITIES, MULTIPLE; ANIMALS; CATARACT; CORNEA; CYTOSKELETON; DISEASE MODELS, ANIMAL; EYE; HYPOGONADISM; INTELLECTUAL DISABILITY; MICE; MICE, KNOCKOUT; MICROCEPHALY; NEURONS; OPTIC ATROPHY; RAB GTP-BINDING PROTEINS;

EID: 84902266803     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.015222     Document Type: Article

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