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Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
Handley MT, Carpanini SM, Mali GR, Sidjanin DJ, Aligianis IA, Jackson IJ, FitzPatrick DR. Handley MT, et al. Among authors: carpanini sm. Open Biol. 2015 Jun;5(6):150047. doi: 10.1098/rsob.150047. Open Biol. 2015. PMID: 26063829 Free PMC article.
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ. Liegel RP, et al. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14. Am J Hum Genet. 2013. PMID: 24239381 Free PMC article.
Rab18 and a Rab18 GEF complex are required for normal ER structure.
Gerondopoulos A, Bastos RN, Yoshimura S, Anderson R, Carpanini S, Aligianis I, Handley MT, Barr FA. Gerondopoulos A, et al. J Cell Biol. 2014 Jun 9;205(5):707-20. doi: 10.1083/jcb.201403026. Epub 2014 Jun 2. J Cell Biol. 2014. PMID: 24891604 Free PMC article.
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA. Handley MT, et al. Among authors: carpanini sm. Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296. Hum Mutat. 2013. PMID: 23420520
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton.
Carpanini SM, McKie L, Thomson D, Wright AK, Gordon SL, Roche SL, Handley MT, Morrison H, Brownstein D, Wishart TM, Cousin MA, Gillingwater TH, Aligianis IA, Jackson IJ. Carpanini SM, et al. Dis Model Mech. 2014 Jun;7(6):711-22. doi: 10.1242/dmm.015222. Epub 2014 Apr 24. Dis Model Mech. 2014. PMID: 24764192 Free PMC article.
The role of RPGR in cilia formation and actin stability.
Gakovic M, Shu X, Kasioulis I, Carpanini S, Moraga I, Wright AF. Gakovic M, et al. Hum Mol Genet. 2011 Dec 15;20(24):4840-50. doi: 10.1093/hmg/ddr423. Epub 2011 Sep 20. Hum Mol Genet. 2011. PMID: 21933838
20 results