By Philippe Jeanteur
Splicing of fundamental RNA transcript is a quasi-systematic step of gene expression in larger organisms. this can be the 1st booklet to focus on the clinical implications, i.e. ailments, attributable to substitute splicing. replacement splicing not just tremendously raises protein range but in addition bargains a variety of possibilities for aberrant splicing occasions with pathological results. The booklet additionally outlines attainable goals for treatment.
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Additional info for Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology)
2003) Shen et al. (1991) Baudry et al. (2000) Ge et al. (2000) Kwabi-Addo et al. (2001) Lin et al. (1998) NOS Ich-1 ischemia Catania et al. (2001) Daoud et al. 1 Gene Transfer Methods Type I and II mutations either destroy splice sites or activate cryptic splice sites. Antisense nucleic acids can suppress point mutations and promote the formation of the normal gene products. Special chemistries were devised to prevent RNAseH-mediated cleavage of the RNA and to lower toxicity (Sazani and Kole 2003).
Ann Hematol 78: 472–474 Methods and Platforms for the Quantification of Splice Variants 23 Kalbfuss B, Mabon SA, Misteli T (2001) Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17. J Biol Chem 276: 42986–42993 Kampa D, Cheng J, Kapranov P, Yamanaka M, Brubaker S, Cawley S, Drenkow J, Piccolboni A, Bekiranov S, Helt G, Tammana H, Gingeras TR (2004) Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22.
2005) Badano et al. (2006) Methionine synthase TCAGCCTGAGAGGA TCAGCCCGAGAGGA GGCCTTCG GGCCTTTG Matern et al. (2003) Short/branched-chain GAGTGGATGGGGG GAGTGGGTGGGGG acyl-CoA dehydrogenase Reference 2-methylbutyryl-coa dehydrogenase deficiency/ short/branched-chain acyl-coa dehydrogenase (SBCAD) Homocystinuria Mutation Gene Disease Table 1. Examples of enhancer mutations involved in human diseases. The table lists examples of mutations in regulatory motifs that cause aberrant splicing. uk/asd/).
Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology) by Philippe Jeanteur