Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary ‘RAB3GAP’ complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-a...

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Detalles Bibliográficos
Autores principales: Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Royal Society 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632505/
https://www.ncbi.nlm.nih.gov/pubmed/26063829
http://dx.doi.org/10.1098/rsob.150047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632505/
https://www.ncbi.nlm.nih.gov/pubmed/26063829
http://dx.doi.org/10.1098/rsob.150047

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