Pre-mRNA splicing and human disease.
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Summary
The purpose of this review is to highlight the different mechanisms by which disruption of pre-mRNA splicing play a role in human disease.
- Type
- review
- Published
- 2003-02-15
- Cited by
- 1,345
- References
- 184
- Access
- Open access
- OpenAlex
- https://openalex.org/W2045131720
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:40930150
Keywords
Biology, RNA splicing, Messenger RNA, Alternative splicing, Genetics
References
- A mutation in CFTR produces different phenotypes depending on chromosomal background
- Alternative splicing and programmed cell death.
- Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome
- A mouse model for spinal muscular atrophy
- Structural basis for recognition of the RNA major groove in the tau exon 10 splicing regulatory element by aminoglycoside antibiotics.
- Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
- Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death
- The Schizosaccharomyces pombe cdc5+ gene encodes an essential protein with homology to c‐Myb.
- The snRNP core assembly pathway: identification of stable core protein heteromeric complexes and an snRNP subcore particle in vitro.
- Extensive interactions of PRP8 protein with the 5′ and 3′ splice sites during splicing suggest a role in stabilization of exon alignment by U5 snRNA.
- Specific inhibition of serine- and arginine-rich splicing factors phosphorylation, spliceosome assembly, and splicing by the antitumor drug NB-506.
- Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
- A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs
- The question remains: Is the spliceosome a ribozyme?
- Fibroblast growth factor receptor-1 alpha-exon exclusion and polypyrimidine tract-binding protein in glioblastoma multiforme tumors.
- Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
- Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
- Inhibition of human melanoma growth and metastasis in vivo by anti-CD44 monoclonal antibody.
- Partial correction of endogenous ΔF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing
- Tau protein isoforms, phosphorylation and role in neurodegenerative disorders.
Cited by
- Genomic analysis of RNA alternative splicing in cancers.
- Genome-wide Characterization of RNA Expression and Processing
- Analysis of HPV-16 Late Gene Expression
- Cancer-Associated Perturbations in Alternative Pre-messenger RNA Splicing.
- Mutations causing neurodegenerative tauopathies.
- Cardiac Tissue-Specific Repression of CELF Activity Disrupts Alternative Splicing and Causes Cardiomyopathy
- Mutation spectrum leading to an attenuated phenotype in dystrophinopathies
- Tau gene mutations and their effects
- Single base‐pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
- Data analysis of alternative splicing microarrays.
- Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides
- Coevolutionary networks of splicing cis-regulatory elements
- An intronic sequence mutated in flexed-tail mice regulates splicing of Smad5
- Systematic evaluation of the effect of common SNPs on pre‐mRNA splicing
- Alternative Splicing of SLC39A14 in Colorectal Cancer is Regulated by the Wnt Pathway*
- Genetics of Gene Expression in CNS
- Temporal and Tissue Specific Regulation of RP-Associated Splicing Factor Genes PRPF3, PRPF31 and PRPC8—Implications in the Pathogenesis of RP
- Rational Design of Bioactive, Modularly Assembled Aminoglycosides Targeting the RNA that Causes Myotonic Dystrophy Type 1
- ExonSuite: Algorithmically optimizing alternative gene splicing for the PUF proteins
- Regulation of alternative splicing by local histone modifications: potential roles for RNA-guided mechanisms
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