Alternative splice variants encoding unstable protein domains exist in the human brain.
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Summary
It is proposed that most unstable proteins encoded by alternative spliced variants lack normal functions and are an evolutionary dead-end.
- Type
- article
- Published
- 2004-11-05
- Cited by
- 22
- References
- 49
- OpenAlex
- https://openalex.org/W2001319824
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:29250984
Keywords
Alternative splicing, splice, Biology, RNA splicing, Gene
References
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- Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
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- Increased levels of expression of an NMDAR1 splice variant in the superior temporal gyrus in schizophrenia
- Structures, Alternative Splicing, and Neurexin Binding of Multiple Neuroligins (*)
- Genome-wide detection of alternative splicing in expressed sequences of human genes
- Crystal structures of two human pyrophosphorylase isoforms in complexes with UDPGlc(Gal)NAc: role of the alternatively spliced insert in the enzyme oligomeric assembly and active site architecture
- GTOP: a database of protein structures predicted from genome sequences
- Alternative splicing and genome complexity
- Structural/functional assignment of unknown bacteriophage T4 proteins by iterative database searches.
- A program to produce both detailed and schematic plots of protein structures
- Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss
- Domain Insertions in Protein Structures
- The regulation of splice-site selection, and its role in human disease.
- Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
- Insertion of foreign random sequences of 120 amino acid residues into an active enzyme
Cited by
- BIOINFORMATIC ANALYSIS OF THE FUNCTIONAL AND STRUCTURAL IMPLICATIONS OF ALTERNATIVE SPLICING.
- Genome-wide survey and analysis of allele-specific mRNA splicing in human and mouse
- A general target selection method for crystallographic proteomics.
- A trio of unique alternative splicing patterns : the splicing of tandem NAGNAG acceptors, transcription-start-site-dependent and mutually dependent cassette exons
- Alternative Splicing of Transcription Factors' Genes: Beyond the Increase of Proteome Diversity
- Human transcription factors contain a high fraction of intrinsically disordered regions essential for transcriptional regulation.
- Non-EST based prediction of exon skipping and intron retention events using Pfam information
- Intrinsically disordered loops inserted into the structural domains of human proteins.
- Binary classification of protein molecules into intrinsically disordered and ordered segments
- Prediction of Protein-Destabilizing Polymorphisms by Manual Curation with Protein Structure
- Alternative splicing in human transcriptome: functional and structural influence on proteins.
- An Overview on Natively Unfolded Proteins
- The GTOP database in 2009: updated content and novel features to expand and deepen insights into protein structures and functions
- Bioinformatics analysis of alternative splicing
- Natively unfolded proteins: An overview
- A trio of unique alternative splicing patterns: The splicing of tandem NAGNAG acceptors, transcription-start-site-dependent and mutually dependent cassette
- NKAINs: A Novel Family of Membrane Proteins that Interact with the Na, K-ATPase and Affect Membrane Excitability
- TIMAP, the versatile protein phosphatase 1 regulator in endothelial cells
- The Intricate Functional Networks of Pre-mRNA Alternative Splicing in Mammalian Spermatogenesis
- Bioinformatics analyses of alternative splicing : non-EST based prediction, influence of secondary structures and tandem splice sites (Bioinformatik Analyse des Alternativen Spleißens : nicht-EST basierte Vorhersage, der Einfluß von Sekundärstrukturen und Tandemspleißstellen)
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