Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.

Handley, Mark T; Carpanini, Sarah M; Mali, Girish R; Sidjanin, Duska J; Aligianis, Irene A; Jackson, Ian J; FitzPatrick, David R

Handley, Mark T; Carpanini, Sarah M; Mali, Girish R; Sidjanin, Duska J; Aligianis, Irene A; Jackson, Ian J; FitzPatrick, David R.

Affiliation

Handley MT; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK mark.handley@igmm.ed.ac.uk.
Carpanini SM; Division of Neurobiology, The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush, Midlothian EH25 9RG, UK.
Mali GR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Sidjanin DJ; Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Aligianis IA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Jackson IJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.

Open Biol ; 5(6): 150047, 2015 Jun.

Article in En | MEDLINE | ID: mdl-26063829

Subject(s)

Abnormalities, Multiple/etiology; Abnormalities, Multiple/pathology; Cataract/congenital; Cornea/abnormalities; Gene Expression Regulation; Hypogonadism/etiology; Hypogonadism/pathology; Intellectual Disability/etiology; Intellectual Disability/pathology; Microcephaly/etiology; Microcephaly/pathology; Optic Atrophy/etiology; Optic Atrophy/pathology; rab GTP-Binding Proteins/metabolism; rab1 GTP-Binding Proteins/metabolism; rab3 GTP-Binding Proteins/metabolism; Abnormalities, Multiple/metabolism; Animals; Blotting, Western; Case-Control Studies; Cataract/etiology; Cataract/metabolism; Cataract/pathology; Cells, Cultured; Cornea/metabolism; Cornea/pathology; Cytosol/metabolism; Endoplasmic Reticulum/metabolism; Fibroblasts/metabolism; Fibroblasts/pathology; Flow Cytometry; Fluorescent Antibody Technique; Guanosine Triphosphate/metabolism; HeLa Cells; Humans; Hydrolysis; Hypogonadism/metabolism; Intellectual Disability/metabolism; Mice; Mice, Knockout; Microcephaly/metabolism; Optic Atrophy/metabolism; RNA, Messenger/genetics; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; rab GTP-Binding Proteins/genetics; rab1 GTP-Binding Proteins/genetics; rab3 GTP-Binding Proteins/genetics

Key words

GAP; GEF; RAB18; Rab; Ras

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Cataract / Optic Atrophy / Gene Expression Regulation / Cornea / Rab GTP-Binding Proteins / Rab1 GTP-Binding Proteins / Rab3 GTP-Binding Proteins / Hypogonadism / Intellectual Disability Type of study: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Language: En Journal: Open Biol Year: 2015 Type: Article Affiliation country: United kingdom

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