Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation
about
Multiple Roles of the Small GTPase Rab7Charcot-Marie-Tooth disease and intracellular trafficThe synaptic maintenance problem: membrane recycling, Ca2+ homeostasis and late onset degenerationRab GTPases, membrane trafficking and diseasesRab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.Retrograde axonal transport: pathways to cell death?Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.Mechanisms of disease in hereditary sensory and autonomic neuropathies.Rab GTPase mediated procollagen trafficking in ascorbic acid stimulated osteoblasts.Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.Network analyses reveal novel aspects of ALS pathogenesisRab GTPases as regulators of endocytosis, targets of disease and therapeutic opportunities.Generation of Rab-based transgenic lines for in vivo studies of endosome biology in zebrafishDuelling functions of the V-ATPaseRab proteins and the compartmentalization of the endosomal systemSystems-wide analysis of BCR signalosomes and downstream phosphorylation and ubiquitylation.Identification of VPS13C as a Galectin-12-Binding Protein That Regulates Galectin-12 Protein Stability and Adipogenesis.Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron developmentRab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling.Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling.Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function.Fly model causes neurological rethink.Caenorhabditis elegans HOPS and CCZ-1 mediate trafficking to lysosome-related organelles independently of RAB-7 and SAND-1.Hereditary spastic paraplegias: membrane traffic and the motor pathway.Cellular pathways of hereditary spastic paraplegia.Rab family of GTPases.Using kernelized partial canonical correlation analysis to study directly coupled side chains and allostery in small G proteins.Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?A role for Rab7 in the movement of secretory granules in cytotoxic T lymphocytes.The Vps13p-Cdc31p complex is directly required for TGN late endosome transport and TGN homotypic fusion.Vimentin phosphorylation and assembly are regulated by the small GTPase Rab7a.Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.Control of RAB7 activity and localization through the retromer-TBC1D5 complex enables RAB7-dependent mitophagy.The where, what, and when of membrane protein degradation in neurons.Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B.Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans.Rab GTPases and Membrane Trafficking in Neurodegeneration.VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sitesC9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor
P2860
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P2860
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Disease mutations in Rab7 resu ...... e and inappropriate activation
@ast
Disease mutations in Rab7 resu ...... e and inappropriate activation
@en
Disease mutations in Rab7 resu ...... e and inappropriate activation
@nl
type
label
Disease mutations in Rab7 resu ...... e and inappropriate activation
@ast
Disease mutations in Rab7 resu ...... e and inappropriate activation
@en
Disease mutations in Rab7 resu ...... e and inappropriate activation
@nl
prefLabel
Disease mutations in Rab7 resu ...... e and inappropriate activation
@ast
Disease mutations in Rab7 resu ...... e and inappropriate activation
@en
Disease mutations in Rab7 resu ...... e and inappropriate activation
@nl
P2860
P3181
P356
P1476
Disease mutations in Rab7 resu ...... e and inappropriate activation
@en
P2093
Brett A McCray
J Paul Taylor
P2860
P304
P3181
P356
10.1093/HMG/DDP567
P577
2010-03-15T00:00:00Z