Associated Papers
Brr2p-mediated unwinding of U4/U6 is promoted by a mutually exclusive intra-molecular stem loop in U4 and involves destabilization of the 5' stem-loop of U4.
Nielsen KH et al.
Biorxiv : the Preprint Server for Biology, 2025
Retinitis pigmentosa-linked mutations impair the snRNA unwinding activity of SNRNP200 and reduce pre-mRNA binding of PRPF8.
Zimmann F et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2.
Guidarelli Mattioli F et al.
The Journal of Physical Chemistry Letters, 2024
Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells.
Krausová M et al.
Life Science Alliance, 2023
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Gerth-Kahlert C et al.
Investigative Ophthalmology & Visual Science, 2019
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Diakatou M et al.
International Journal of Molecular Sciences, 2019
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.
Astuti GDN et al.
Genes, 2018
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
Functions and regulation of the Brr2 RNA helicase during splicing.
Absmeier E et al.
Cell Cycle (georgetown, Tex.), 2016
Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.
Cvačková Z et al.
Human Mutation, 2014
Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
Zhang X et al.
Eye (london, England), 2013
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Liu T et al.
Plos One, 2012
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P et al.
Human Mutation, 2011
Brr2p RNA helicase with a split personality: insights into structure and function.
Hahn D et al.
Biochemical Society Transactions, 2010
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Li N et al.
Investigative Ophthalmology & Visual Science, 2010
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.
Zhao C et al.
American Journal of Human Genetics, 2009