Recombinant Human Retinoschisin (RS1)

1. molecular detail such as the precise localization of mutant protein in the cell as well as its ability to assemble into a functionally active oligomer might largely influence disease severity among XLRS patients PMID: 29851975
2. These results establish that extracellular delivery of RS1 rescues the structural and functional deficits in the Rs1h knockout mouse model and that this ex vivo gene therapy approach can inhibit progression of disease. PMID: 27390514
3. Taken together, RS1 mutation was found to segregate with retinoschisis phenotype while none of the other identified variations were co-segregating with the systemic defects. Hereby, we infer that the multisystemic defects harbored by the patient are a rare coexistence of XLRS, developmental delay, sensorineural hearing loss, and reduced axial tone reported for the first time in the literature. PMID: 28574807
4. Results suggest a regulatory effect of retinoschisin on Na/K-ATPase signaling and localization, whereas Na/K-ATPase-dysregulation caused by retinoschisin deficiency could represent an initial step in XLRS pathogenesis. PMID: 28615319
5. these findings support distinct mechanisms of pathology for two classes of X-linked retinoschisis -associated mutations in the retinoschisin assembly. PMID: 27798099
6. A novel RS1 (97delT) mutation was identified in a Taiwanese family with X-linked retinoschisis (XLRS). This finding expands the RS1 mutation spectrum and may help to further understand the molecular pathogenesis of XLRS. PMID: 24529551
7. Clinical and genetic characterization of affected homozygous females in XLRS affords the rare opportunity to explore the molecular mechanisms of XLRS and the manifestation of these mutations as disease in humans. PMID: 25894957
8. A novel RS1 (304C > T) mutation in a Taiwanese family with X-linked retinoschisis. PMID: 26043410
9. We identified a novel causative mutation of RS1 in a Chinese family with X-linked juvenile retinoschisis. PMID: 25168411
10. the disease and p.Arg197Cys mutation of RS1 gene was identified PMID: 25799783
11. X-linked retinoschisis despite striking differences in phenotypic presentation in affected subjects, homozygosity of one affected female, and seemingly dominant inheritance in three subsequent generations because of multiple consanguinity. PMID: 25054456
12. Sequencing of the RS1 gene identified 16 mutations, nine of which were novel. PMID: 24505212
13. Severe RS1 missense changes were associated with a lower ERG b/a ratio than were mild changes in X-linked retinoschisis suggesting the effect of the mutations on protein structure influenced the retinal dysfunction. PMID: 23847049
14. Two novel exonic deletions within the RS1 gene locus, are reported. PMID: 24227916
15. There is profound phenotypic variability in patients with XLRS. Nonsense, splice-site, or frame-shifting mutations in RS1 consistently caused electronegative bright-flash ERG, delayed flicker response, and abnormal PERG PMID: 23453514
16. Four novel RS1 gene mutations have been described in male Polish patients with X-linked juvenile retinoschisis. PMID: 23288992
17. aggregation propensity in the RS1 C110Y mutant is dependent upon the formation of suitable aggregating substrates for propagation of aggregation and not directly related to or determined by overall structural instability PMID: 22292953
18. Clinical follow-up of an X-linked juvenile retinoschisis (XLRS) patient with a typical juvenile retinoschisis phenotype revealed no significant decline in visual acuity during this time period. PMID: 22171610
19. Ten hemizygous mutations in RS1 were detected in patients from 14 of the 20 families with retinoschisis. PMID: 22245991
20. Loss of RS1 due to mutations in the X-linked retinoschsis gene leads to splitting within the retinal layers. PMID: 22183371
21. adaptive optics scanning laser ophthalmoscopy images of two patients with molecularly characterized XLRS revealed increased cone spacing and abnormal packing in the macula of each patient, but cone coverage and function were near normal. PMID: 22110067
22. RS1 mutation putative severity and age both had significant effects on retinal function in X-linked retinoschisis only in the severe mutation group, as judged by electroretinography analysis of the b-wave amplitude and the b/a-ratio PMID: 22039241
23. Data suggest that retinoschisin secretion is regulated by the F-actin cytoskeleton, that cGMP or inhibition of ROCK alters F-actin structure enhancing the secretion, and that the microtubule cytoskeleton is also involved in this process. PMID: 21738583
24. Two novel mutations (W112X and S134P) and three previously identified missense mutations (R102Q, R200H, and R213W) were found. PMID: 21701876
25. Retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis, membrane association is severely impaired in the absence of ATP1A3 and ATP1B2. PMID: 21196491
26. analyzed the biochemical consequences of several RS1 signal-sequence mutants (c.1A>T, c.35T>A, c.38T>C, and c.52G>A) in X-linked retinoschisis disease PMID: 20809529
27. The R213W mutation in RS1 causes various severities of retinoschisis in a large Chinese family. PMID: 20806044
28. Clinical follow-up of ten young XLRS (X-linked retinoschisis) patients with a typical congenital retinoschisis phenotype revealed no significant decline in retinal function during this time period. PMID: 20569020
29. A novel p.D126G mutation appeared to be associated with a severe phenotype with vitreous hemorrhage developing in infancy. PMID: 20151283
30. Results show that missense mutations of retinoschisin which cause intracellular retention also lead to an unfolded protein response. PMID: 19849666
31. Novel and known missense mutations of XLRS1 gene in the diagnosis retinoschisis. PMID: 12055472
32. Two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis. One novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found. PMID: 12383832
33. Basis of RS1 is intracellular retention of mutant proteins, which may explain why disease severity is not mutation-specific. PMID: 12417531
34. Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr missense mutation of the XLRS1 gene. PMID: 12457918
35. X-linked retinoschisis is caused by defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin PMID: 12746437
36. analysis of folding of mutant RS1 protein PMID: 12782284
37. Each family had a different mutation, Trp96stop, 522+1g-->a, and Lys167Asn in the XLRS1 gene. PMID: 12920343
38. four base pair deletion (375- 378 del AGAT) in exon 5 of the XLRS1 gene was found in all affected males. PMID: 12967815
39. Molecular testing revealed a novel 473-bp deletion including exon 4 in the XLRS1 gene in both siblings. This resulted in a frameshift mutation and a premature termination at codon 78. PMID: 14986011
40. One patient with more severe clinical presentation had a RS1 exon 1 deletion and a P193S mutation was found in the other patient with mild macular involvement PMID: 15281981
41. In three patients, we identified three different missense mutations (p.S73P, p.Y89C, p.R209C) in the functionally important discoidin domain of the RS1 gene. PMID: 15531314
42. assembly of RS1 into a disulfide-linked homo-octamer appears to be critical for its function as a retinal cell adhesion protein PMID: 15644328
43. A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis. PMID: 16768192
44. We identified a novel point mutation (1A>T transversion) in the initiation codon of the XLRS1 gene in affected males PMID: 17031297
45. Retinoschisin protein(RS) is expressed in the pinealocytes but not in interstitial glial cells. The lack of structural abnormalities in the RS1(-/Y) mice suggests that RS serves a different function in the pineal gland than in the retina. PMID: 17093404
46. Review. Many mutations have been found in RS1, which encodes a 224-AA secreting retinal protein, retinoschisin. Retinoschisin octamerisation is implicated in cell-cell interactions & cell adhesion perhaps by interacting with beta2 laminin. PMID: 17172462
47. We describe a novel nonsense mutation in the conserved region of Rs1 in a Japanese XLRS family. PMID: 17295148
48. Multiple fine white dots at the macula may be the initial fundus feature in RS1 mutation. PMID: 17296904
49. Mutations in RS1 to be associated with XLRS in the Indian population. PMID: 17515881
50. Severe X linked juvenile retinoschisis phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations. PMID: 17615541

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HGNC: 10457

OMIM: 300839

KEGG: hsa:6247

STRING: 9606.ENSP00000369320

UniGene: Hs.715725