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OPHN1 encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Zusätzlich bieten wir Ihnen Oligophrenin 1 Antikörper (15) und Oligophrenin 1 Kits (3) und viele weitere Produktgruppen zu diesem Protein an.
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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 (zeige GP6 Proteine) 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, the Rho-GTPase-activating protein oligophrenin 1 (OPHN1) and the mitochondrial-encoded ATPase6 (ATP6).
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 (zeige BIN1 Proteine)/amphiphysin (zeige AMPH Proteine)/Rvs167) domain. (oligophrenin 1 protein )
Data suggest that OPHN1 defect may be an important contributory factor to XLMR (zeige DLG3 Proteine).
The OPHN1 gene plays a role during the development of the human cerebellum.
OPHN1 mediated regulation of RhoA (zeige RHOA Proteine), Rac1 and Cdc42 (zeige CDC42 Proteine) 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 (zeige RACGAP1 Proteine) 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 (zeige GRM8 Proteine) long-term depression.
The results of this study indicated the presence of a circadian oscillator in the hippocampus, involving the clock gene Bmal1 (zeige ARNTL Proteine) (also known as Arntl (zeige ARNTL Proteine)), that is modulated by Rev-erbalpha (zeige NR1D1 Proteine) and requires oligophrenin-1 for normal oscillation.
Oligophrenin-1 is expressed in developing CNS areas that evince synaptic plasticity. OPHN1 is expressed in both glial and neuronal cells, where it colocalizes with actin at the tip of growing neurites.
This study indicates that cognitive impairment related to OPHN1 loss of function is associated with both presynaptic and postsynaptic alterations.
Loss of OPHN1 leads to the activation of the RhoA (zeige RHOA Proteine)/ROCK signaling pathway.
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