Oligophrenin 1 Proteine (OPHN1)

Human Oligophrenin 1 (OPHN1) Interaktionspartner

1. 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

2. Furthermore, we found that olfactory behaviour was perturbed in OPHN1 ko mice. Chronic treatment with a Rho kinase 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.

3. 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.

4. A neuronal stem cell-based model for the treatment of OPHN1 syndrome and other neurological disorders due to ROCK dysfunction.

5. results suggest that oligophrenin-1 is involved in tumor progression in prostate cancer

6. 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.

7. Our results demonstrate that multiple post-transcriptional events occur on OPHN1, a gene playing an important role in brain function and development.

8. In response to GPVI stimulation, OPHN1 becomes phosphorylated at Tyr370 and plays a role in the formation of filopodia during platelet spreading on collagen.

9. 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).

10. 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/amphiphysin/Rvs167) domain. (oligophrenin 1 protein )

11. Data suggest that OPHN1 defect may be an important contributory factor to XLMR.

12. The OPHN1 gene plays a role during the development of the human cerebellum.

13. Found in glial cells forming myelin sheaths in the vagus nerve, sciatic nerve and dorsal roots of guinea-pig, rat and human, in chromaffin cells of the adrenal medulla, and in chromaffin cells associated with sympathetic ganglia.

14. Oligophrenin 1 mutations were found in 12% (2/17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/196) of the X-linked mental retardation group.

15. Disruption of the OPHN1 gene on Xq12 is associated with mental retardation and tall stature

16. oligophrenin 1 gene (OPHN1) is an Rho-GTPase-activating protein involved in the regulation of the G-protein cycle required for dendritic spine morphogenesis

Mouse (Murine) Oligophrenin 1 (OPHN1) Interaktionspartner

1. Ophn1 deficiency generates severe impairments in performance at spatial working memory tests.

2. 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

3. Furthermore, we found that olfactory behaviour was perturbed in OPHN1 ko mice. Chronic treatment with a Rho kinase 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.

4. OPHN1 mediated regulation of RhoA, Rac1 and Cdc42 is crucial for the preservation of cardiac function after myocardial injury.

5. Identify OPHN1 as an important regulator of platelet cytoskeletal reorganization and thrombus formation.

6. OPHN1 is a bifunctional protein that is able, through distinct mechanisms, to regulate and most likely link exocytosis to compensatory endocytosis in chromaffin cells.

7. OPHN1 is a powerful regulator of Rho GTPase 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.

8. Ophn1 is involved in processes of normal retinal vessel function during adulthood.

9. our data establish a role for rapid OPHN1 synthesis in mGluR long-term depression.

10. The results of this study indicated the presence of a circadian oscillator in the hippocampus, involving the clock gene Bmal1 (also known as Arntl), that is modulated by Rev-erbalpha and requires oligophrenin-1 for normal oscillation.

11. 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.

12. This study indicates that cognitive impairment related to OPHN1 loss of function is associated with both presynaptic and postsynaptic alterations.

13. Loss of OPHN1 leads to the activation of the RhoA/ROCK signaling pathway.

14. Results sugest that reduced or defective OPHN1 signaling impairs synaptic vesicle cycling at hippocampal synapses.

Cow (Bovine) Oligophrenin 1 (OPHN1) Interaktionspartner

1. OPHN1 is a bifunctional protein that is able, through distinct mechanisms, to regulate and most likely link exocytosis to compensatory endocytosis in chromaffin cells.