OPHN1 Antibody

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 PMID: 27146843
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. PMID: 27742778
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. PMID: 27390894
4. A neuronal stem cell-based model for the treatment of OPHN1 syndrome and other neurological disorders due to ROCK dysfunction. PMID: 27160703
5. results suggest that oligophrenin-1 is involved in tumor progression in prostate cancer PMID: 25170626
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. PMID: 24105372
7. Our results demonstrate that multiple post-transcriptional events occur on OPHN1, a gene playing an important role in brain function and development. PMID: 24637888
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. PMID: 23619296
9. 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 ) PMID: 21796728
10. Data suggest that OPHN1 defect may be an important contributory factor to XLMR. PMID: 20528889
11. The OPHN1 gene plays a role during the development of the human cerebellum. PMID: 12807966
12. 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. PMID: 15026118
13. 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. PMID: 16221952
14. Disruption of the OPHN1 gene on Xq12 is associated with mental retardation and tall stature PMID: 17845870
15. oligophrenin 1 gene (OPHN1) is an Rho-GTPase-activating protein involved in the regulation of the G-protein cycle required for dendritic spine morphogenesis PMID: 18261018

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HGNC: 8148

OMIM: 300127

KEGG: hsa:4983

STRING: 9606.ENSP00000347710

UniGene: Hs.128824