Detalhe da pesquisa
1.
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.
J Biol Chem
; 299(11): 105295, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37774976
2.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Am J Hum Genet
; 100(5): 706-724, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28413018
3.
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Am J Hum Genet
; 93(6): 1001-14, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24239381
4.
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Nat Genet
; 38(2): 191-6, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16415887
5.
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Am J Hum Genet
; 88(4): 499-507, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21473985
6.
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Nat Genet
; 37(3): 221-3, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15696165
7.
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Hum Mutat
; 34(5): 686-96, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23420520
8.
RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
Biochem Soc Trans
; 40(6): 1394-7, 2012 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176487
9.
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
Open Biol
; 5(6): 150047, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063829
10.
Progressive cone dystrophy associated with mutation in CNGB3.
Invest Ophthalmol Vis Sci
; 45(6): 1975-82, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15161866
11.
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
Mol Genet Genomic Med
; 2(4): 319-25, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25077174
12.
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton.
Dis Model Mech
; 7(6): 711-22, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24764192
13.
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
Am J Hum Genet
; 78(4): 702-7, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16532399
14.
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
Am J Hum Genet
; 79(2): 390-5, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16826531