Mutations Of The Catalytic Subunit Of RAB3GAP Cause Warburg Micro Syndrome.
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Date
2005Author
Maher, ER
Woods, CG
Tannahill, D
Mundlos, S
Takai, Y
Harris, LW
Trembath, RC
Bond, J
Warburg, M
Kjaer, KW
Graham, JM Jr
Dobyns, WB
Newbury-Ecob, R
Shield, JP
Mégarbané, A
Clayton-Smith, J
Fieggen, K
Stolte-Dijkstra, I
Cole, TR
Rosser, E
Horn, D
Ainsworth, JR
Morton, J
Tee, L
Morgan, NV
Maina, EN
Hoffmann, K
Hampshire, D
Chen, D
Gissen, P
Johnson, CA
Aligianis, IA
Type
ArticleLanguage
enMetadata
Show full item recordAbstract
Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome. We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors
URI
http://www.ncbi.nlm.nih.gov/pubmed/15696165http://erepository.uonbi.ac.ke:8080/xmlui/handle/123456789/48654
Citation
Nat Genet. 2005 Mar;37(3):221-3Publisher
Department of Biochemistry
Collections
- Faculty of Health Sciences (FHS) [10378]