| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/487 |
| P8608 | Fatcat ID | release_7cb6mo5njjcrhgw6iqabz6ja4i |
| P698 | PubMed publication ID | 9620768 |
| P5875 | ResearchGate publication ID | 13663267 |
| P50 | author | Patrizia D'Adamo | Q47825026 |
| P2093 | author name string | D Toniolo | |
| J Chelly | |||
| A K Gedeon | |||
| T Bienvenu | |||
| W E Balch | |||
| F Tamanini | |||
| C Lo Nigro | |||
| M Gulisano | |||
| F Valtorta | |||
| M Grasso | |||
| A Menegon | |||
| B Oostra | |||
| A Tandon | |||
| S K Wu | |||
| P2860 | cites work | Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport | Q24307664 |
| Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI) | Q24312728 | ||
| Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase | Q24313609 | ||
| Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci | Q24314458 | ||
| Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation | Q24314619 | ||
| Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy | Q24317622 | ||
| Transcriptional organization of a 450-kb region of the human X chromosome in Xq28 | Q24564001 | ||
| Structure and mutational analysis of Rab GDP-dissociation inhibitor | Q27732640 | ||
| The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion | Q28119024 | ||
| Cloning of a gene that is rearranged in patients with choroideraemia | Q28255063 | ||
| Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 | ||
| Protein prenyltransferases | Q28277579 | ||
| Rim is a putative Rab3 effector in regulating synaptic-vesicle fusion | Q28575529 | ||
| The diversity of Rab proteins in vesicle transport | Q29620216 | ||
| Identification of the gene FMR2, associated with FRAXE mental retardation | Q34385889 | ||
| Rab GDP dissociation inhibitor: putting rab GTPases in the right place. | Q40447597 | ||
| Protocols for an improved detection of point mutations by SSCP | Q40505519 | ||
| Rab proteins in regulated exocytosis | Q40664339 | ||
| XLMR genes: update 1996. | Q41127106 | ||
| Structural insights into the function of the Rab GDI superfamily | Q41331147 | ||
| Purification of His6-tagged Rab1 proteins using bacterial and insect cell expression systems | Q41386311 | ||
| Rab3A small GTP-binding protein in Ca(2+)-dependent exocytosis | Q41392502 | ||
| Function of Rab3 GDP-GTP exchange | Q41459525 | ||
| Better late than never: a role for rabs late in exocytosis | Q41630373 | ||
| Noradrenaline release from streptolysin O-permeated rat cortical synaptosomes: effects of calcium, phorbol esters, protein kinase inhibitors, and antibodies to the neuron-specific protein kinase C substrate B-50 (GAP-43). | Q44604709 | ||
| Rab3A is essential for mossy fibre long-term potentiation in the hippocampus. | Q46030840 | ||
| The role of Rab3A in neurotransmitter release | Q48106348 | ||
| Rat hippocampal neurons in dispersed cell culture | Q48292684 | ||
| An electron microscopic study of the development of axons and dendrites by hippocampal neurons in culture. II. Synaptic relationships | Q48638920 | ||
| A small GTP-binding protein dissociates from synaptic vesicles during exocytosis | Q50337421 | ||
| Emx1 and Emx2 show different patterns of expression during proliferation and differentiation of the developing cerebral cortex in the mouse. | Q52201737 | ||
| Focal Adhesion Kinase in Rat Central Nervous System | Q58191988 | ||
| How many X-linked genes for non-specific mental retardation (MRX) are there? | Q71578912 | ||
| Prevalence of fragile X syndrome | Q71578926 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 134-139 | |
| P577 | publication date | 1998-06-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Mutations in GDI1 are responsible for X-linked non-specific mental retardation | |
| P478 | volume | 19 |
| Q34394872 | A GDP/GTP exchange protein for the Rab3 small G protein family up-regulates a postdocking step of synaptic exocytosis in central synapses |
| Q48117476 | A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases |
| Q34102797 | A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? |
| Q57986125 | A molecular perspective of human circadian rhythm disorders |
| Q27629919 | A new functional domain of guanine nucleotide dissociation inhibitor (alpha-GDI) involved in Rab recycling |
| Q34520281 | A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. |
| Q33872910 | A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation |
| Q34145980 | A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. |
| Q47705882 | A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility |
| Q22011110 | A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation |
| Q51986224 | A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. |
| Q24678726 | A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients |
| Q44122969 | Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation |
| Q94554709 | Allelic variants between mouse substrains BALB/cJ and BALB/cByJ influence mononuclear cardiomyocyte composition and cardiomyocyte nuclear ploidy |
| Q37649839 | Altered fronto-striatal functions in the Gdi1-null mouse model of X-linked Intellectual Disability. |
| Q45104033 | Alternative splicing in the N-terminus of Alzheimer's presenilin 1. |
| Q36893770 | An extended set of yeast-based functional assays accurately identifies human disease mutations |
| Q46644062 | Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome |
| Q35121791 | Animal models of mental retardation: from gene to cognitive function. |
| Q51953580 | Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. |
| Q40919664 | Association of some potential hormone response elements in human genes with the Alu family repeats |
| Q38158310 | Astroglial vesicular network: evolutionary trends, physiology and pathophysiology |
| Q30480127 | Biochemical, molecular and behavioral phenotypes of Rab3A mutations in the mouse |
| Q28071491 | Biomarkers of systemic lupus erythematosus identified using mass spectrometry-based proteomics: a systematic review |
| Q24648345 | Cargos and genes: insights into vesicular transport from inherited human disease |
| Q37435112 | Chapter 5: rab proteins and their interaction partners |
| Q28187375 | Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27 |
| Q36581928 | Characterization of breast cancer interstitial fluids by TmT labeling, LTQ-Orbitrap Velos mass spectrometry, and pathway analysis. |
| Q26824841 | Charcot-Marie-Tooth disease and intracellular traffic |
| Q47294747 | Consequences of Rab GTPase dysfunction in genetic or acquired human diseases |
| Q52611846 | De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features. |
| Q28510217 | Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice |
| Q48884202 | Deep sequencing reveals 50 novel genes for recessive cognitive disorders |
| Q34698731 | Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation |
| Q35431804 | Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11 |
| Q30872198 | Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation |
| Q51895423 | Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. |
| Q27658747 | Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation |
| Q24535749 | Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome |
| Q37466137 | Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. |
| Q43773556 | Drosophila rab GDI mutants disrupt development but have normal Rab membrane extraction |
| Q34021143 | Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males |
| Q35906775 | Dynamics of subcellular proteomes during brain development |
| Q37949205 | Emerging major synaptic signaling pathways involved in intellectual disability |
| Q37980726 | Endocytosis and signaling: cell logistics shape the eukaryotic cell plan |
| Q30572673 | Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family |
| Q41177876 | Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family |
| Q35550087 | FMR2 function: insight from a mouse knockout model |
| Q51953231 | Family MRX9 revisited: further evidence for locus heterogeneity in MRX. |
| Q34145837 | Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections. |
| Q37288421 | Fragile X syndrome and epilepsy |
| Q26767192 | Functions of Rab Proteins at Presynaptic Sites |
| Q35078438 | GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila |
| Q45873090 | GDP dissociation inhibitor domain II required for Rab GTPase recycling |
| Q38749499 | GOLM1 Modulates EGFR/RTK Cell-Surface Recycling to Drive Hepatocellular Carcinoma Metastasis |
| Q37108117 | Genetic and environmental factors in complex neurodevelopmental disorders |
| Q38578790 | Genetic basis of cognitive disability |
| Q34542327 | Genetic effects on human cognition: lessons from the study of mental retardation syndromes |
| Q35176054 | Genetic evidence for phospholipid-mediated regulation of the Rab GDP-dissociation inhibitor in fission yeast |
| Q34529963 | Genetics and pathophysiology of mental retardation |
| Q27640652 | Geranylgeranyl switching regulates GDI-Rab GTPase recycling |
| Q37318803 | How to get to the right place at the right time: Rab/Ypt small GTPases and vesicle transport. |
| Q35441852 | Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation |
| Q30433374 | Identification of two evolutionarily conserved genes regulating processing of engulfed apoptotic cells |
| Q48837219 | Impaired αGDI Function in the X-Linked Intellectual Disability: The Impact on Astroglia Vesicle Dynamics |
| Q34306151 | In search of the MRX genes |
| Q38175937 | In vivo functions of small GTPases in neocortical development |
| Q64046329 | Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype |
| Q35296262 | Is mental retardation a defect of synapse structure and function? |
| Q51967079 | Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. |
| Q34768417 | Loss-of-function mutations in RAB18 cause Warburg micro syndrome. |
| Q50312539 | MECP2 mutation in male patients with non-specific X-linked mental retardation. |
| Q35748292 | MERTK signaling in the retinal pigment epithelium regulates the tyrosine phosphorylation of GDP dissociation inhibitor alpha from the GDI/CHM family of RAB GTPase effectors. |
| Q51906849 | MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation. |
| Q34069967 | MRX review |
| Q51972177 | Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? |
| Q51972756 | Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family. |
| Q51972757 | Mechanisms, models, and mental retardation. |
| Q37104002 | Membrane extraction of Rab proteins by GDP dissociation inhibitor characterized using attenuated total reflection infrared spectroscopy |
| Q26774812 | Memory Formation Shaped by Astroglia |
| Q51979648 | Mental function in males and females. |
| Q42624652 | Mice deficient for the synaptic vesicle protein Rab3a show impaired spatial reversal learning and increased explorative activity but none of the behavioral changes shown by mice deficient for the Rab3a regulator Gdi1. |
| Q47991954 | Mind the GAP, Rho, Rab and GDI. |
| Q33805791 | Molecular approaches to the Rett syndrome gene |
| Q36342536 | Molecular basis for Rab prenylation |
| Q39068332 | Molecular control of Rab activity by GEFs, GAPs and GDI. |
| Q41665340 | Molecular dissection of guanine nucleotide dissociation inhibitor function in vivo. Rab-independent binding to membranes and role of Rab recycling factors |
| Q33599007 | Molecular mechanisms of neurite extension |
| Q41005428 | Molecular role for the Rab binding platform of guanine nucleotide dissociation inhibitor in endoplasmic reticulum to Golgi transport |
| Q51972754 | Molecular study of the PAK3 and GDI1 genes in nonsyndromic X-linked mental retardation spanish patients. |
| Q34354315 | Monogenic causes of X-linked mental retardation. |
| Q36463165 | Mutation in Parkinson disease-associated, G-protein-coupled receptor 37 (GPR37/PaelR) is related to autism spectrum disorder |
| Q24290357 | Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation |
| Q44147284 | Mutations in Rab3a alter circadian period and homeostatic response to sleep loss in the mouse |
| Q24682652 | Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus |
| Q48308938 | Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. |
| Q33998564 | Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation |
| Q24299324 | Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly |
| Q36908290 | Neurite extension occurs in the absence of regulated exocytosis in PC12 subclones. |
| Q34205119 | Nonsyndromic X-linked mental retardation: where are the missing mutations? |
| Q58061148 | Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability |
| Q34328378 | Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease |
| Q28279479 | PAK in Alzheimer disease, Huntington disease and X-linked mental retardation |
| Q28281729 | PAK3 mutation in nonsyndromic X-linked mental retardation |
| Q38390535 | Pathologic potential of astrocytic vesicle traffic: new targets to treat neurologic diseases? |
| Q34727676 | Platelet-activating factor-mediated endosome formation causes membrane translocation of p67phox and p40phox that requires recruitment and activation of p38 MAPK, Rab5a, and phosphatidylinositol 3-kinase in human neutrophils. |
| Q35537938 | Protein sector analysis for the clustering of disease-associated mutations |
| Q34460932 | Protein trafficking mechanisms associated with neurite outgrowth and polarized sorting in neurons. |
| Q33346462 | Proteomic analysis of lamellar bodies isolated from rat lungs |
| Q48138489 | RAB37 interacts directly with ATG5 and promotes autophagosome formation via regulating ATG5-12-16 complex assembly |
| Q35278147 | Rab GTPases as regulators of endocytosis, targets of disease and therapeutic opportunities |
| Q34109808 | Rab GTPases, intracellular traffic and disease. |
| Q27687621 | Rab GTPases, membrane trafficking and diseases |
| Q26862704 | Rab and Arf proteins in genetic diseases |
| Q37157313 | Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders |
| Q35575289 | Rab proteins and endocytic trafficking: potential targets for therapeutic intervention |
| Q38014826 | Rab proteins and the secretory pathway: the case of rab18 in neuroendocrine cells |
| Q38236498 | Rab proteins: the key regulators of intracellular vesicle transport |
| Q28578339 | Rab-alphaGDI activity is regulated by a Hsp90 chaperone complex |
| Q37031233 | Rab-mediated endocytosis: linking neurodegeneration, neuroprotection, and synaptic plasticity? |
| Q38107224 | Rab27 effectors, pleiotropic regulators in secretory pathways. |
| Q28510800 | Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3 |
| Q36462734 | RabGDI controls axonal midline crossing by regulating Robo1 surface expression. |
| Q39031304 | Rabs, Membrane Dynamics, and Parkinson's Disease |
| Q28591692 | Region-specific astrogliosis in brains of mice heterozygous for mutations in the neurofibromatosis type 1 (Nf1) tumor suppressor |
| Q26825750 | Regulation of small GTPases by GEFs, GAPs, and GDIs |
| Q51972760 | Rho proteins and the cellular mechanisms of mental retardation. |
| Q24296962 | Rho proteins, mental retardation and the cellular basis of cognition |
| Q35974513 | Rho proteins, mental retardation and the neurobiological basis of intelligence |
| Q29616548 | Role of Rab GTPases in membrane traffic and cell physiology |
| Q28505842 | Role of Rab3 GDP/GTP exchange protein in synaptic vesicle trafficking at the mouse neuromuscular junction |
| Q35323901 | Role of rab GDP dissociation inhibitor alpha in regulating plasticity of hippocampal neurotransmission |
| Q27329446 | Searching for signaling balance through the identification of genetic interactors of the Rab guanine-nucleotide dissociation inhibitor gdi-1 |
| Q34784083 | Signals from the X: signal transduction and X-linked mental retardation |
| Q37361965 | Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders |
| Q34306122 | Splitting and lumping in the nosology of XLMR. |
| Q39413658 | Statins and the Brain: More than Lipid Lowering Agents? |
| Q48305633 | Structural gene organization and evolutionary aspects of the V-ATPase accessory subunit Ac45. |
| Q34326032 | Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy |
| Q28507382 | Structure and expression of murine mgcRacGAP: its developmental regulation suggests a role for the Rac/MgcRacGAP signalling pathway in neurogenesis |
| Q30476697 | Structure of doubly prenylated Ypt1:GDI complex and the mechanism of GDI-mediated Rab recycling |
| Q48821834 | Subcellular localization of fragile X mental retardation protein with the I304N mutation in the RNA-binding domain in cultured hippocampal neurons |
| Q24544126 | The BAR domain proteins: molding membranes in fission, fusion, and phagy |
| Q42654253 | The GDI1 genes from Kluyveromyces lactis and Pichia pastoris: cloning and functional expression in Saccharomyces cerevisiae |
| Q24542523 | The Rab GTPase family |
| Q37219071 | The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. |
| Q33945296 | The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). |
| Q47217972 | The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease |
| Q34283901 | The genetic basis of non-syndromic intellectual disability: a review |
| Q35247088 | The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition. |
| Q24535650 | The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation |
| Q28078374 | The spinal cord shows the way - How axons navigate intermediate targets |
| Q27310147 | Tracking individual secretory vesicles during exocytosis reveals an ordered and regulated process |
| Q35621520 | Tumor-specific mutations in low-frequency genes affect their functional properties |
| Q22004258 | Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon |
| Q22003768 | Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13 |
| Q35430841 | Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1. |
| Q44830611 | Update on the genetics of X-linked mental retardation |
| Q56973223 | Where Proteins and Lipids Meet |
| Q35064189 | Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis |
| Q36239035 | X linked mental retardation: a clinical guide |
| Q40156896 | X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. |
| Q56270643 | X-linked mental retardation |
| Q73013123 | X-linked mental retardation |
| Q24563790 | X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 |
| Q30579103 | X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region |
| Q35026980 | X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms |
Search more.