SNRNP200 Antibody

1. This work identifies a novel immunoregulatory role of the spliceosomal SNRNP200 helicase as an RNA sensor and TBK1 adaptor for the activation of IRF3-mediated antiviral innate response PMID: 27454487
2. Our data suggest that BRR2 is an important factor in 5'-splice-site recognition and that the retinitis pigmentosa linked mutations c.3260C>T (p.S1087L) and c.3269G>T (p.R1090L) affect this BRR2 function. PMID: 24302620
3. Mutations in SNRNP200 cause 1.6% of autosomal dominant retinitis pigmentosa. PMID: 24319334
4. we evaluated the mutation profile in 24 exons containing the hotspots in SNRNP200 among a cohort of southern Han Chinese retinitis pigmentosa patients and controls. A total of 18 novel variants were detected. PMID: 23887765
5. differential human cell culture splicing and cell cycle defect models due to perturbed levels of human U5 snRNP associated U5-200kD RNA helicase PMID: 23637979
6. A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. PMID: 23029027
7. results reveal the structural and functional interplay between two helicase cassettes in a tandem superfamily 2 enzyme and point to several sites through which Brr2 activity may be regulated PMID: 23045696
8. 4 new missense changes (p.R681C, p.R681H, p.V683L, p.Y689C) affecting highly conserved codons were identified in 6 unrelated individuals, indicating that the prevalence of SNRNP200-associated autosomal dominant retinitis pigmentosa is relatively high. PMID: 21618346
9. A novel locus for RP33 has been assigned to chromosomal region 2cen-q12.1, which in a Chinese kindred is associated with a relatively late onset form of retinitis pigmentosa. PMID: 16612614
10. The results provide strong evidence that mutations in ASCC3L1 have resulted in autosomal dominant retinitis pigmentosa in this Chinese family. PMID: 19710410
11. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200 is reported. PMID: 19878916

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HGNC: 30859

OMIM: 601664

KEGG: hsa:23020

STRING: 9606.ENSP00000317123

UniGene: Hs.246112