标题
Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition
作者
关键词
-
出版物
HUMAN MUTATION
Volume 35, Issue 3, Pages 308-317
出版商
Wiley
发表日期
2013-11-08
DOI
10.1002/humu.22481
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genes and mutations causing retinitis pigmentosa
- (2013) S P Daiger et al. CLINICAL GENETICS
- Inhibition of RNA Helicase Brr2 by the C-Terminal Tail of the Spliceosomal Protein Prp8
- (2013) S. Mozaffari-Jovin et al. SCIENCE
- Structure, function and regulation of spliceosomal RNA helicases
- (2012) Olivier Cordin et al. CURRENT OPINION IN CELL BIOLOGY
- Brr2p-mediated conformational rearrangements in the spliceosome during activation and substrate repositioning
- (2012) D. Hahn et al. GENES & DEVELOPMENT
- hnRNP A1 Proofreads 3′ Splice Site Recognition by U2AF
- (2012) Joao Paulo Tavanez et al. MOLECULAR CELL
- Dynamic Protein-Protein Interaction Wiring of the Human Spliceosome
- (2012) Anna Hegele et al. MOLECULAR CELL
- A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
- (2012) Tiecheng Liu et al. PLoS One
- Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome
- (2012) K. F. Santos et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa
- (2011) Goranka Tanackovic et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
- (2011) Goranka Tanackovic et al. HUMAN MOLECULAR GENETICS
- Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa
- (2011) Paola Benaglio et al. HUMAN MUTATION
- Histone Deacetylase Activity Modulates Alternative Splicing
- (2011) Jarmila Hnilicová et al. PLoS One
- Proofreading and spellchecking: A two-tier strategy for pre-mRNA splicing quality control
- (2011) D. E. Egecioglu et al. RNA
- The splice is right: Guarantors of fidelity in pre-mRNA splicing
- (2011) D. S. Horowitz RNA
- The differential interaction of snRNPs with pre-mRNA reveals splicing kinetics in living cells
- (2010) Martina Huranová et al. JOURNAL OF CELL BIOLOGY
- Recombineering BAC transgenes for protein tagging
- (2010) Giovanni Ciotta et al. METHODS
- In vivo kinetics of U4/U6·U5 tri-snRNP formation in Cajal bodies
- (2010) Ivan Novotný et al. MOLECULAR BIOLOGY OF THE CELL
- The DEAH Box ATPases Prp16 and Prp43 Cooperate to Proofread 5′ Splice Site Cleavage during Pre-mRNA Splicing
- (2010) Prakash Koodathingal et al. MOLECULAR CELL
- Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs
- (2009) Chen Zhao et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Spliceosome: Design Principles of a Dynamic RNP Machine
- (2009) Markus C. Wahl et al. CELL
- A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs
- (2009) M. Huranova et al. HUMAN MOLECULAR GENETICS
- Common Design Principles in the Spliceosomal RNA Helicase Brr2 and in the Hel308 DNA Helicase
- (2009) Vladimir Pena et al. MOLECULAR CELL
- Structural evidence for consecutive Hel308-like modules in the spliceosomal ATPase Brr2
- (2009) Lingdi Zhang et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Cryptic splicing sites are differentially utilized in vivo
- (2008) Amel Haj Khelil et al. FEBS Journal
- BAC TransgeneOmics: a high-throughput method for exploration of protein function in mammals
- (2008) Ina Poser et al. NATURE METHODS
- ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8
- (2008) Corina Maeder et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- A role for ubiquitin in the spliceosome assembly pathway
- (2008) Priya Bellare et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
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