| scholarly article | Q13442814 |
| P50 | author | Patrizia Accorsi | Q84965914 |
| Renata Posmyk | Q102327749 | ||
| Francis A. Barr | Q37378170 | ||
| Ghada M Abdel-Salam | Q47502267 | ||
| Mark T Handley | Q55712222 | ||
| Deborah J Morris-Rosendahl | Q56422941 | ||
| P2093 | author name string | Stephen Brown | |
| Francesca Faravelli | |||
| Bo Chang | |||
| Lucio Giordano | |||
| Eamonn Sheridan | |||
| Paulien A Terhal | |||
| Allison D Ebert | |||
| Lorenzo Pinelli | |||
| Adam Ronchetti | |||
| Duska J Sidjanin | |||
| Britta Hartmann | |||
| Lars Langemeyer | |||
| Andrea Linford | |||
| Irene A Aligianis | |||
| Ryan P Liegel | |||
| Sarah Carpanini | |||
| Verity Harthill | |||
| P2860 | cites work | Nuclear breakdown during terminal differentiation of primary lens fibres in mice: a transmission electron microscopic study | Q67920078 |
| Failure of acrosome assembly in a male sterile mouse mutant | Q70026645 | ||
| Blind-sterile: a new mutation on chromosome 2 of the house mouse | Q71768348 | ||
| Rab18 is reduced in pituitary tumors causing acromegaly and its overexpression reverts growth hormone hypersecretion | Q80893789 | ||
| The synaptic vesicle cycle | Q24297813 | ||
| Specific Rab GTPase-activating proteins define the Shiga toxin and epidermal growth factor uptake pathways | Q24309468 | ||
| Role for TBC1D20 and Rab1 in hepatitis C virus replication via interaction with lipid droplet-bound nonstructural protein 5A | Q24312182 | ||
| New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish | Q24316006 | ||
| Analysis of GTPase-activating proteins: Rab1 and Rab43 are key Rabs required to maintain a functional Golgi complex in human cells | Q24336927 | ||
| The gregarious lipid droplet | Q24651460 | ||
| Regulation of small GTPases by GEFs, GAPs, and GDIs | Q26825750 | ||
| Fiji: an open-source platform for biological-image analysis | Q27860912 | ||
| Significance of GTP hydrolysis in Ypt1p-regulated endoplasmic reticulum to Golgi transport revealed by the analysis of two novel Ypt1-GAPs | Q27930315 | ||
| Rab GTPases as coordinators of vesicle traffic | Q28131746 | ||
| Rab18 localizes to lipid droplets and induces their close apposition to the endoplasmic reticulum-derived membrane | Q28252694 | ||
| Regulated localization of Rab18 to lipid droplets: effects of lipolytic stimulation and inhibition of lipid droplet catabolism | Q28275690 | ||
| Rab18 and Rab43 have key roles in ER-Golgi trafficking | Q28288974 | ||
| Cloning and subcellular localization of novel rab proteins reveals polarized and cell type-specific expression | Q28299423 | ||
| Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules | Q28301322 | ||
| Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome | Q28306313 | ||
| Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3 | Q28510800 | ||
| Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice | Q28589395 | ||
| Production of fertile offspring from genetically infertile male mice | Q28591964 | ||
| Lipid droplets: a unified view of a dynamic organelle | Q29614467 | ||
| Phenotypic variability in Micro syndrome: report of new cases. | Q33320581 | ||
| The waved with open eyelids (woe) locus is a hypomorphic mouse mutation in Adam17. | Q33535689 | ||
| Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data | Q33549937 | ||
| A CNS-specific hypomorphic Pdgfr-beta mutant model of diabetic retinopathy | Q33630883 | ||
| A second family with Micro syndrome. | Q33877930 | ||
| Rab18 dynamics in adipocytes in relation to lipogenesis, lipolysis and obesity | Q33988103 | ||
| The role of lipid droplets in metabolic disease in rodents and humans | Q34027148 | ||
| Rab32 is important for autophagy and lipid storage in Drosophila | Q34163854 | ||
| Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome | Q34345568 | ||
| Rab3-GAP controls the progression of synaptic homeostasis at a late stage of vesicle release | Q34688291 | ||
| Loss-of-function mutations in RAB18 cause Warburg micro syndrome. | Q34768417 | ||
| Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice | Q34851541 | ||
| Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? | Q35571085 | ||
| Rab GTPases implicated in inherited and acquired disorders | Q36090727 | ||
| Hepatitis C virus infection activates an innate pathway involving IKK-α in lipogenesis and viral assembly | Q36913366 | ||
| Lipid droplets and cellular lipid metabolism | Q37157015 | ||
| A role for lipid droplets in inter-membrane lipid traffic | Q37178208 | ||
| Rab GEFs and GAPs | Q37751479 | ||
| Biological glass: structural determinants of eye lens transparency | Q37852898 | ||
| Illuminating the functional and structural repertoire of human TBC/RABGAPs. | Q37976530 | ||
| Cellular pathways of hereditary spastic paraplegia | Q38006054 | ||
| RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes. | Q38061994 | ||
| TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication | Q40075069 | ||
| Acrosome biogenesis: Revisiting old questions to yield new insights | Q40830245 | ||
| Vesicular traffic and golgi apparatus dynamics during mammalian spermatogenesis: implications for acrosome architecture | Q40873001 | ||
| Perinuclear cytoskeleton of acrosome-less spermatids in the blind sterile mutant mouse | Q41101228 | ||
| Warburg Micro syndrome in a Turkish boy. | Q41918770 | ||
| Micro syndrome in Muslim Pakistan children | Q41923897 | ||
| Warburg micro syndrome in two children from a highly inbred Turkish family | Q41933455 | ||
| Warburg Micro syndrome | Q41933601 | ||
| A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome | Q41936180 | ||
| Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome | Q42688004 | ||
| Characterization of Rab18, a lipid droplet-associated small GTPase | Q42814420 | ||
| A thematic review series: lipid droplet storage and metabolism: from yeast to man. | Q42942943 | ||
| Stage-specific expression of nucleoprotein mRNAs during rat and mouse spermiogenesis | Q44704723 | ||
| Fluorescent detection of lipid droplets and associated proteins | Q46785353 | ||
| Characterization and expression of a stage specific antigen by monoclonal antibody TRA 54 in testicular germ cells | Q47931004 | ||
| MICRO syndrome: an entity distinct from COFS syndrome. | Q51939733 | ||
| Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. | Q51939734 | ||
| Genetic localization of Hao-1, blind-sterile (bs), and Emv-13 on mouse chromosome 2 | Q67486080 | ||
| P4510 | describes a project that uses | ImageJ | Q1659584 |
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Warburg micro syndrome | Q6839205 |
| male infertility | Q280156 | ||
| Early endosome antigen 1 | Q14911544 | ||
| lipid droplet organization | Q21100510 | ||
| RAB18, member RAS oncogene family | Q21119750 | ||
| RAB3 GTPase activating protein catalytic subunit 1 | Q21125019 | ||
| B cell CLL/lymphoma 9 | Q21495409 | ||
| Golgi autoantigen, golgin subfamily a, 1 | Q21982153 | ||
| RAB3 GTPase activating protein subunit 1 | Q21987941 | ||
| RAB18, member RAS oncogene family | Q21989969 | ||
| TBC1 domain family, member 20 | Q21990249 | ||
| Protein disulfide isomerase associated 4 | Q21990866 | ||
| Sec31 homolog A (S. cerevisiae) | Q21991109 | ||
| P304 | page(s) | 1001-1014 | |
| P577 | publication date | 2013-12-05 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans | |
| P478 | volume | 93 |
| Q37020193 | A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration. |
| Q27347670 | A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). |
| Q90724638 | A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition |
| Q33677248 | A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton |
| Q34117389 | Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome |
| Q50138613 | Autophagy in turnover of lipid stores: trans-kingdom comparison |
| Q89963647 | Axonal Endoplasmic Reticulum Dynamics and Its Roles in Neurodegeneration |
| Q97091776 | Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth |
| Q38724924 | COPI-TRAPPII activates Rab18 and regulates its lipid droplet association |
| Q40772677 | Consanguinity as an Adjunct Diagnostic Tool. |
| Q53534814 | Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. |
| Q41928692 | Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans |
| Q53089645 | Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. |
| Q27322815 | Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression |
| Q38212652 | Genetic disorders associated with postnatal microcephaly |
| Q52808488 | Hepatic Lipophagy: New Insights into Autophagic Catabolism of Lipid Droplets in the Liver. |
| Q64109194 | ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy |
| Q34474699 | Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. |
| Q42752422 | 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 |
| Q39068332 | Molecular control of Rab activity by GEFs, GAPs and GDI. |
| Q52576058 | Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters. |
| Q92009298 | Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature |
| Q36583899 | RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. |
| Q24309113 | RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy |
| Q38907192 | Rab proteins as regulators of lipid droplet formation and lipolysis |
| Q24298701 | Rab18 and a Rab18 GEF complex are required for normal ER structure |
| Q48172407 | Rab18 promotes lipid droplet (LD) growth by tethering the ER to LDs through SNARE and NRZ interactions |
| Q36802211 | Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy |
| Q35695398 | Screening of potential target genes for cataract by analyzing mRNA expression profile of mouse Hsf4-null lens |
| Q38796772 | Small molecules, both dietary and endogenous, influence the onset of lens cataracts. |
| Q91770897 | Specific TBC Domain-Containing Proteins Control the ER-Golgi-Plasma Membrane Trafficking of GPCRs |
| Q41575670 | TBC1D20 mediates autophagy as a key regulator of autophagosome maturation |
| Q34700522 | Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice |
| Q37418556 | The Acrosomal Matrix |
| Q36396065 | The endocytic recycling regulatory protein EHD1 Is required for ocular lens development |
| Q34885255 | The role of the small GTPase Rab31 in cancer |
| Q38894893 | Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome |
| Q36246988 | Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation |
| Q52682740 | Whole-genome scan reveals significant non-additive effects for sire conception rate in Holstein cattle. |
| Q92152336 | [Role of lipophagy in the regulation of lipid metabolism and the molecular mechanism] |
| Q90327230 | [Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child] |
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