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OPHN1 encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. De plus, nous expédions Oligophrenin 1 Anticorps (27) et Oligophrenin 1 Kits (6) et beaucoup plus de produits pour cette protéine.
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Here, we report that chronic treatment in adult mouse with Fasudil, is able to counteract vertical and horizontal hyperactivities, restores recognition memory and limits the brain ventricular dilatation observed in Ophn1(-)(/y) However, deficits in working and spatial memories are partially or not rescued by the treatment
Furthermore, we found that olfactory behaviour was perturbed in OPHN1 ko mice. Chronic treatment with a Rho kinase (Montrer ROCK1 Protéines) inhibitor rescued most of the defects of the newly generated neurons. Altogether, our data indicated that OPHN1 plays a key role in regulating the number, morphology and function of adult-born inhibitory interneurons and contributed to identify potential therapeutic targets.
we reported on the first male patient carrying an OPHN1 mutation with IQ score within the normal limits. This observation expands the phenotypic spectrum of OPHN1 mutations.
A neuronal stem cell-based model for the treatment of OPHN1 syndrome and other neurological disorders due to ROCK dysfunction.
results suggest that oligophrenin-1 is involved in tumor progression in prostate cancer
This is the first description of an in-frame deletion within the BAR domain of OPHN1 and could provide new insights into the role of this domain in relation to brain and cognitive development or function.
Our results demonstrate that multiple post-transcriptional events occur on OPHN1, a gene playing an important role in brain function and development.
In response to GPVI (Montrer GP6 Protéines) stimulation, OPHN1 becomes phosphorylated at Tyr370 and plays a role in the formation of filopodia during platelet spreading on collagen.
Several genes expressed at exceptionally high levels were identified associated with early oocyte development, TMEFF2 (Montrer TMEFF2 Protéines), the Rho-GTPase-activating protein (Montrer STARD13 Protéines) oligophrenin 1 (OPHN1) and the mitochondrial-encoded ATPase6 (ATP6 (Montrer MT-ATP6 Protéines)).
This mutation determines the production of a mutant oligophrenin 1 protein with 16 extra amino acids inserted in-frame in the N-terminal BAR (Bin1 (Montrer BIN1 Protéines)/amphiphysin (Montrer AMPH Protéines)/Rvs167) domain. (oligophrenin 1 protein )
Ophn1 deficiency generates severe impairments in performance at spatial working memory tests.
Furthermore, we found that olfactory behaviour was perturbed in OPHN1 ko mice. Chronic treatment with a Rho kinase (Montrer ROCK2 Protéines) inhibitor rescued most of the defects of the newly generated neurons. Altogether, our data indicated that OPHN1 plays a key role in regulating the number, morphology and function of adult-born inhibitory interneurons and contributed to identify potential therapeutic targets.
OPHN1 mediated regulation of RhoA (Montrer RHOA Protéines), Rac1 and Cdc42 (Montrer CDC42 Protéines) is crucial for the preservation of cardiac function after myocardial injury.
Identify OPHN1 as an important regulator of platelet cytoskeletal reorganization and thrombus formation.
OPHN1 is a bifunctional protein that is able, through distinct mechanisms, to regulate and most likely link exocytosis to compensatory endocytosis in chromaffin cells.
OPHN1 is a powerful regulator of Rho GTPase (Montrer RACGAP1 Protéines) activity in platelets that is critical for the reorganization of the cytoskeleton, which is a major process required for stable platelet adhesion and thrombus formation to occur.
Ophn1 is involved in processes of normal retinal vessel function during adulthood.
our data establish a role for rapid OPHN1 synthesis in mGluR (Montrer GRM8 Protéines) long-term depression.
The results of this study indicated the presence of a circadian oscillator in the hippocampus, involving the clock gene Bmal1 (Montrer ARNTL Protéines) (also known as Arntl (Montrer ARNTL Protéines)), that is modulated by Rev-erbalpha (Montrer NR1D1 Protéines) and requires oligophrenin-1 for normal oscillation.
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism.
mental retardation, X-linked 60
, oligophrenin-1, Rho-GTPase activating protein
, oligophrenin 1