Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
about
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyThe novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardationDisruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndromeThe Rab GTPase familyThe BAR domain proteins: molding membranes in fission, fusion, and phagyX-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Cargos and genes: insights into vesicular transport from inherited human diseaseA 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 patientsMutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusFunctions of Rab Proteins at Presynaptic SitesMemory Formation Shaped by AstrogliaCharcot-Marie-Tooth disease and intracellular trafficRegulation of small GTPases by GEFs, GAPs, and GDIsRab and Arf proteins in genetic diseasesTracking individual secretory vesicles during exocytosis reveals an ordered and regulated process.Searching for signaling balance through the identification of genetic interactors of the Rab guanine-nucleotide dissociation inhibitor gdi-1A new functional domain of guanine nucleotide dissociation inhibitor (alpha-GDI) involved in Rab recyclingDisease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activationRab GTPases, membrane trafficking and diseasesBiomarkers of systemic lupus erythematosus identified using mass spectrometry-based proteomics: a systematic reviewCharacterization 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 MRX27PAK in Alzheimer disease, Huntington disease and X-linked mental retardationRole of Rab3 GDP/GTP exchange protein in synaptic vesicle trafficking at the mouse neuromuscular junctionStructure and expression of murine mgcRacGAP: its developmental regulation suggests a role for the Rac/MgcRacGAP signalling pathway in neurogenesisRab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3Rab-alphaGDI activity is regulated by a Hsp90 chaperone complexRegion-specific astrogliosis in brains of mice heterozygous for mutations in the neurofibromatosis type 1 (Nf1) tumor suppressorRole of Rab GTPases in membrane traffic and cell physiologyIdentification of two evolutionarily conserved genes regulating processing of engulfed apoptotic cells.Structure of doubly prenylated Ypt1:GDI complex and the mechanism of GDI-mediated Rab recycling.Biochemical, molecular and behavioral phenotypes of Rab3A mutations in the mouse.Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.Proteomic analysis of lamellar bodies isolated from rat lungsMolecular mechanisms of neurite extension.Molecular approaches to the Rett syndrome gene.Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationDuplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.MRX review.Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections.
P2860
Q24299324-8970FAD2-CF5D-4D8D-8755-267FEE53C0EFQ24535650-963BCFCD-165B-4169-9744-DB4D123208E1Q24535749-AB61B521-3496-49DE-826F-164A8E202DE7Q24542523-C78AB443-0F6C-416A-9295-FDF0A67586DEQ24544126-2A845F31-C024-44A1-9BD9-B6387FFE57A7Q24563790-C9910395-E49A-43C0-B905-4116BE9FE00EQ24648345-E5996026-032B-403D-8EA8-B78EAE6FD390Q24678726-6DBC473F-EEA8-4815-B9FF-35A2CFA0CDB8Q24682652-9EA06903-E902-454C-9350-7261CFEBEDC2Q26767192-800D089D-8E64-4676-AE68-D8474BF2D2B0Q26774812-E1562505-45F1-4E05-80EE-D46AC89D61F8Q26824841-2049A6EB-7355-4E94-8EF2-9DA5C0369CFFQ26825750-250DF965-F04F-48BE-885C-8926B4A9C303Q26862704-E2FE1C49-74E2-4034-B101-213C106B3437Q27310147-4CF52A90-60E1-4D88-98FE-747C4AF7EE45Q27329446-03F03E6C-C977-466E-BBC6-D9466146FA37Q27629919-244DFCF4-264C-42EF-9D37-EB7DA23EDDC5Q27658747-C8885C7D-598E-4DC5-8D6A-9058F7070B53Q27687621-2CE4A3B1-F2DC-4BD1-94D9-D9B62FA5A6A1Q28071491-6135B957-C9F8-45A2-A07F-A3965E833574Q28187375-11622C93-493E-4217-9168-EC872AD91EA7Q28279479-4B0ED841-956A-49CC-B9D8-E04232CFF5F3Q28505842-BAE94398-8B0E-4334-8496-BFA542924C27Q28507382-CFF4D73E-DDA0-4492-BC29-6B60670EF2D1Q28510800-185B76C4-AA83-48E7-AE76-8CC625F998B6Q28578339-3A8F7D8B-6F26-4BA9-812D-584D9D339C79Q28591692-17627819-59FA-4764-B83C-0E4B450AEAE1Q29616548-9C4C1B3F-0319-4840-8A6C-5B256ED8FB91Q30433374-AAC6C410-0D5F-49E6-835A-BBF1DAFED4AAQ30476697-AC2CF741-A316-4C46-8E9B-2E165B931715Q30480127-D006B492-01E0-4716-9F6B-689635595B04Q30572673-185A961A-D988-447C-B4E9-BC92CBA8D7E3Q30579103-6AB13814-F077-44FC-AB57-7421465B840CQ33346462-19805F23-F19D-43EA-9957-A3697E4AA976Q33599007-CFCB86B9-7C6E-45C4-9C85-C72CEBD7CF11Q33805791-30B60CE0-8A31-4EF1-A129-3B5C7770AA6FQ33998564-0D3B9A66-730D-43B2-B1F0-380E390AF480Q34021143-21E28CDB-3179-41EC-B927-2C2291101AECQ34069967-50798131-83A3-45B0-9271-99E713121149Q34145837-C05BA53F-684D-4117-A063-A66649B8D2F3
P2860
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@ast
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@en
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@nl
type
label
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@ast
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@en
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@nl
prefLabel
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@ast
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@en
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@nl
P2093
P2860
P356
P1433
P1476
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
@en
P2093
A K Gedeon
C Lo Nigro
F Tamanini
F Valtorta
P2860
P2888
P304
P356
10.1038/487
P407
P577
1998-06-01T00:00:00Z