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Anderson SL, Qiu J, Rubin BY (2003) EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. Biochem Biophys Res Commun 310: 627-633
Andreassi C, Jarecki J, Zhou J, Coovert DD, Monani UR., Chen X, Whitney M, Pollok B, Zhang M, Androphy E, Burghes AH (2001) Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet 10: 2841-2849
Asparuhova M, Kole R, Schumperli, D (2005) Antisense derivatives of U7 and other small nuclear RNAs as tools to modify pre-mRNA splicing patterns. Gene Ther Regulation 2: 321-349
Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N (2006) Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature 439: 326-330
Baudry D, Hamelin M, Cabanis MO, Fournet JC, Tournade MF, Sarnacki S, Junien C, Jeanpierre C (2000) WT1 splicing alterations in Wilms’ tumors. Clin Cancer Res 6: 3957-3965
Ben-Shaul Y, Bergman H, Soreq H (2005) Identifying subtle interrelated changes in functional gene categories using continuous measures of gene expression. Bioinformatics 21: 1129-1137
Black DL (2003) Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem 72: 291-336
Brichta L, Hofmann Y, Hahnen E, Siebzehnrubl FA, Raschke H, Blumcke I, Eyupoglu IY, Wirth B (2003) Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 12: 2481-2489
Carstens RP, McKeehan WL, Garcia-Blanco MA (1998) An intronic sequence ele-ment mediates both activation and repression of rat fibroblast growth factor receptor 2 pre-mRNA splicing. Mol Cell Biol 18: 2205-2217
Cartegni L, Krainer AR (2002) Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 30: 377-384
Cartegni L, Krainer AR (2003) Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol 10: 120-5
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR (2003) ESE finder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 31: 3568-3571
Catania MV, Aronica E, Yankaya B, Troost D (2001) Increased expression of neu-ronal nitric oxide synthase spliced variants in reactive astrocytes of amyotrophic lateral sclerosis human spinal cord. J Neurosci 21: RC148
Celotto AM, Graveley BR (2001). Alternative splicing of the Drosophila Dscam pre-mRNA is both temporally and spatially regulated. Genetics 159: 599-608
Celotto AM, Graveley BR (2002) Exon-specific RNAi: a tool for dissecting the functional relevance of alternative splicing. Rna 8: 718-724
Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H (2001) Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A 98: 9808-9813
Chao H, Mansfield SG, Bartel RC, Hiriyanna S, Mitchell LG, Garcia-Blanco MA, Walsh CE (2003) Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. Nat Med 9: 1015-9
Chen W, Kubota S, Teramoto T, Nishimura Y, Yonemoto K, Seyama Y (1998) Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5′ splice site at the mutant codon in cerebrotendinous xanthomatosis patients. Biochemistry 37: 4420-4428
Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D’Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC (1998) Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc Natl Acad Sci U S A 95: 13103-13107
D’Souza I, Poorkaj P, Hong M, Nochlin D, Lee VM-Y, Bird TD, Schellenberg GD (1999) Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci USA 96: 5598-5603
Daoud R, Mies G, Smialowska A, Oláh L, Hossmann K, Stamm S (2002) Ischemia induces a translocation of the splicing factor tra2-beta1 and changes alternative splicing patterns in the brain. J Neurosci 22: 5889-5899
De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, Rodriguez D, Saudubray JM, Poggi F, Liebaers I (1994) Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh’s encephalomyelopathy. Pediatr Res 36: 707-712
Denicourt C, Kozak CA, Rassart E (2003) Gris1, a new common integration site in Graffi murine leukemia virus-induced leukemias: overexpression of a truncated cyclin D2 due to alternative splicing. J Virol 77: 37-44
Faustino NA, Cooper TA (2003) Pre-mRNA splicing and human disease. Genes Dev 17: 419-437
Fehlbaum P, Guihal C, Bracco L, Cochet O (2005) A microarray configuration to quantify expression levels and relative abundance of splice variants. Nucleic Acids Res 33: e47
Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A (2001) Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A 98: 12614-12619
Fischer DC, Noack K, Runnebaum IB, Watermann DO, Kieback DG, Stamm S, Stickeler E (2004) Expression of splicing factors in human ovarian cancer. Oncol Rep 11: 1085-1090
Garcia-Blanco MA, Baraniak AP, Lasda EL (2004) Alternative splicing in disease and therapy. Nat Biotechnol 22: 535-546
Gavin AL, Ait-Azzouzene D, Ware CF, Nemazee D 2003 DeltaBAFF, an alternate splice isoform that regulates receptor binding and biopresentation of the B cell survival cytokine. BAFF. J Biol Chem 278: 38220-38228
Ge K, Minhas F, Duhadaway J, Mao NC, Wilson D, Buccafusca R, Sakamuro D, Nelson P, Malkowicz SB, Tomaszewski J, Prendergast GC (2000) Loss of heterozygosity and tumor suppressor activity of Bin1 in prostate carcinoma. Int J Cancer 86: 155-161
Glatz DC, Rujescu D, Tang Y, Berendt FJ, Hartmann AM, Faltraco F, Rosenberg C, Hulette C, Jellinger K, Hampel H, Riederer P, Moller HJ, Andreadis A, Henkel K, Stamm S (2006) The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2-BETA1 changes in sporadic Alzheimer’s disease. J Neurochem 96: 635-644
Gu YH, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC (2001) ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am J Med Genet 99: 217-222
Gupta S, Zink D, Korn B, Vingron M, Haas SA (2004) Strengths and weaknesses of EST-based prediction of tissue-specific alternative splicing. BMC Genomics 5: 72
Hasegawa Y, Kawame H, Ida H, Ohashi T, Eto Y (1994) Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing. Hum Genet 93: 415-420
Hofmann Y, Lorson CL, Stamm S, Androphy EJ, Wirth B (2000) Htra2-beta 1 stim-ulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci U S A 97: 9618-9623
Hull J, Shackleton S, Harris A (1994) Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells. Hum Mol Genet 3: 1141-1146
Huntsman MM, Tran BV, Potkin SG, Bunney WE, Jr, Jones EG (1998) Altered ratios of alternatively spliced long and short gamma2 subunit mRNAs of the gamma-amino butyrate type A receptor in prefrontal cortex of schizophrenics. Proc Natl Acad Sci U S A 95: 15066-15071
Iijima M, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, Schmidt ML, Takahashi K, Nabika T, Matsumoto T, Yamashita Y, Yoshioka S, Ishino H (1999) A distinct familial presenile dementia with a novel missense mutation in the tau gene. Neuroreport 10: 497-501
Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, Yang YY, Darnell RB (2000) Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability. Neuron 25: 359-371
Jin Y, Dietz HC, Montgomery RA, Bell WR, McIntosh I, Coller B, Bray PF (1996) Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J Clin Invest 98: 1745-54
Johnson JM, Castle J, Garrett-Engele P, Kan Z, Loerch PM, Armour CD, Santos R, Schadt EE, Stoughton R, Shoemaker DD (2003) Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science 302: 2141-2144
Jumaa H, Wei G, Nielsen PJ (1999) Blastocyst formation is blocked in mouse embryos lacking the splicing factor SRp20. Curr Biol 9: 899-902
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. Genome Res 14: 331-342
Kashima T, Manley JL (2003) A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 34: 460-463
Kralovicova J, Houngninou-Molango S, Kramer A, Vorechovsky I (2004) Branch site haplotypes that control alternative splicing. Hum Mol Genet 13: 3189-3202
Kwabi-Addo B, Ropiquet F, Giri D, Ittmann M (2001) Alternative splicing of fibroblast growth factor receptors in human prostate cancer. Prostate 46: 163-172
Lacerra G, Sierakowska H, Carestia C, Fucharoen S, Summerton J, Weller D, Kole R (2000) Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients. Proc Natl Acad Sci U S A 97: 9591-9596
Lan N, Howrey RP, Lee SW, Smith CA, Sullenger BA (1998) Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors. Science 280: 1593-1596
Lewis BP, Green RE, Brenner SE (2003) Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc Natl Acad Sci U S A 100: 189-192
Lin C, Bristol LA, Jin L, Dykes-Hoberg M, Crawford T, Clawson L, Rothstein JD (1998) Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 20: 589-602
Liu S, Asparuhova M, Brondani V, Ziekau I, Klimkait T, Schumperli D (2004) Inhibition of HIV-1 multiplication by antisense U7 snRNAs and siRNAs targeting cyclophilin A. Nucleic Acids Res 32: 3752-3759
Liu W, Qian C, Francke U (1997) Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 16: 328-329
Llewellyn DH, Scobie GA, Urquhart AJ, Whatley SD, Roberts AG, Harrison PR, Elder GH (1996) Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at - 22 bp from the 5′ splice site causes skipping of exon 3. J Med Genet 33: 437-438
Lopez-Bigas N, Audita B, Ouzounis C, Parra G, Guigo R (2005) Are splicing muta-tions the most frequent cause of hereditary disease? FEBS Lett in press
Lukas J, Gao DQ, Keshmeshian M, Wen WH, Tsao-Wei D, Rosenberg S, Press MF (2001) Alternative and aberrant messenger RNA splicing of the mdm2 oncogene in invasive breast cancer. Cancer Res 61: 3212-3219
Lunn MR, Root DE, Martino AM, Flaherty SP, Kelley BP, Coovert DD, Burghes AH, Man NT, Morris GE, Zhou J, Androphy EJ, Sumner CJ, Stockwell BR (2004) Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol 11: 1489-1493
Maniatis T, Reed R (2002) An extensive network of coupling among gene expres-sion machines. Nature 416: 499-506
Maniatis T, Tasic B (2002) Alternative pre-mRNA splicing and proteome expan-sion in metazoans. Nature 418: 236-243
Mann CJ, Honeyman K, Cheng AJ, Ly T, Lloyd F, Fletcher S, Morgan JE, Partridge TA, Wilton SD (2001) Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc Natl Acad Sci U S A 98: 42-47
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J (2003) Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong popula-tion by newborn screening using tandem mass spectrometry. Pediatrics 112: 74-78
Missler M, Sudhof TC (1998) Neurexins: three genes and 1001 products. Trends Genet 14: 20-26
Nakai K, Sakamoto H (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141: 171-177
Nissim-Rafinia M, Kerem B (2002) Splicing regulation as a potential genetic modifier. Trends Genet 18: 123-127
Pagani F, Buratti E, Stuani C, Baralle FE (2003) Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J Biol Chem 278: 26580-26588
Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE (2003b) New type of disease causing mutations: the exam-ple of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet 12: 1111-1120
Pfeffer U, Fecarotta E, Castagnetta L, Vidali G (1993) Estrogen receptor variant messenger RNA lacking exon 4 in estrogen-responsive human breast cancer cell lines. Cancer Res 53: 741-743
Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R (1996) Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. Hum Genet 97: 51-59
Rafalska I, Zhang Z, Benderska N, Wolff H, Hartmann AM, Brack-Werner R, Stamm S (2004) The intranuclear localization and function of YT521-B is regulated by tyrosine phosphorylation. Hum Mol Genet 13: 1535-1549
Relogio A, Ben-Dov C, Baum M, Ruggiu M, Gemund C, Benes V, Darnell RB, Valcarcel J (2005) Alternative splicing microarrays reveal functional expression of neuron-specific regulators in Hodgkin lymphoma cells. J Biol Chem 280: 4779-4784
Rizzu P, Van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A, Niermeijer MF, Hillebrand M, Ravid R, Oostra BA, Goedert M, van Duijn CM, Heutink P (1999) High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 64: 414-421
Rogers CS, Vanoye CG, Sullenger BA, George AL Jr (2002) Functional repair of a mutant chloride channel using a trans-splicing ribozyme. J Clin Invest 110: 1783-1789
Sanford JR, Gray NK, Beckmann K, Caceres JF (2004) A novel role for shuttling SR proteins in mRNA translation. Genes Dev 18: 755-768
Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML et al (1995) Three new adeno-sine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. Hum Mol Genet 4: 2081-2087
Sazani P, Kole R (2003) Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing. J Clin Invest 112: 481-486
Shen WF, Detmer K, Simonitch-Eason TA, Lawrence HJ, Largman C (1991) Alternative splicing of the HOX 2.2 homeobox gene in human hematopoietic cells and murine embryonic and adult tissues. Nucleic Acids Res 19: 539-545
Singh NN, Androphy EJ, Singh RN (2004a) An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. Biochem Biophys Res Commun 315: 381-388
Singh NN, Androphy EJ, Singh RN (2004b) In vivo selection reveals combinator-ial controls that define a critical exon in the spinal muscular atrophy genes. Rna 10: 1291-1305
Singh NN, Androphy EJ, Singh RN (2004c) The regulation and regulatory activities of alternative splicing of the SMN gene.Crit Rev Eukary Gene Exp 14: in press
Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F (2003) Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A 100: 4114-4119
Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF (2004) Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet 13: 429-436
Smith CW, Valcarcel J (2000) Alternative pre-mRNA splicing: the logic of combi-natorial control. Trends Biochem Sci 25: 381-388
Soret J, Bakkour N, Maire S, Durand S, Zekri L, Gabut M, Fic W, Divita G, Rivalle C, Dauzonne D, Nguyen C-H, Jeanteur P, Tazi J (2005) Selective modi-fication of alternative splicing by indole derivatives that target SR protein splicing factors. Proc Natl Acad Sci U S A, in press
Stamm S (2002) Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genome. Hum Mol Genet 11: 2409-2416
Stamm S, Zhu J, Nakai K, Stoilov P, Stoss O Zhang MQ (2000) An alternative-exon database and its statistical analysis. DNA Cell Biol 19: 739-756
Stamm S, Ben-Ari S, Rafalska I, Tang Y, Zhang Z, Toiber D, Thanaraj TA, Soreq H (2005) Function of alternative splicing. Gene 344C: 1-20
Steinman HA, Burstein E, Lengner C, Gosselin J, Pihan G, Duckett CS, Jones SN (2004) An alternative splice form of Mdm2 induces p53-independent cell growth and tumorigenesis. J Biol Chem 279: 4877-4886
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21: 577-581
Stoilov P, Meshorer E, Gencheva M, Glick D, Soreq H, Stamm S (2002) Defects in pre-mRNA processing as causes of and predisposition to diseases. DNA Cell Biol 21: 803-818
Thanaraj TA, Stamm S, Clark F, Riethoven JJ, Le Texier V, Muilu J (2004) ASD: the Alternative Splicing Database. Nucleic Acids Res 32:Database issue D 64-69
Umeda Y, Taniguchi S, Arima K, Piao YS, Takahashi H, Iwatsubo T, Mann D, Hasegawa M (2004) Alterations in human tau transcripts correlate with those of neurofilament in sporadic tauopathies. Neurosci Lett 359: 151-154
Vawter MP, Frye MA, Hemperly JJ, VanderPutten DM, Usen N, Doherty P, Saffell JL, Issa F, Post RM, Wyatt RJ, Freed WJ (2000) Elevated concentration of N-CAM VASE isoforms in schizophrenia. J Psychiatr Res 34: 25-34
Venables JP, Elliott DJ, Makarova OV, Makarov EM, Cooke HJ, Eperon IC (2000) RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. Hum Mol Genet 9: 685-694
Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS (2001) A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 8: 375-381
Wang HY, Xu X, Ding JH, Bermingham JR Jr, Fu XD (2001) SC35 plays a role in T cell development and alternative splicing of CD45. Mol Cell 7: 331-342
Watanabe T, Sullenger BA (2000) Induction of wild-type p53 activity in human cancer cells by ribozymes that repair mutant p53 transcripts. Proc Natl Acad Sci U S A 97: 8490-8494
Xavier KA, Eder PS, Giordano T (2000) RNA as a drug target: methods for biophysical characterization and screening. Trends Biotechnol 18: 349-356
Xu Q, Lee C (2003) Discovery of novel splice forms and functional analysis of cancer-specific alternative splicing in human expressed sequences. Nucleic Acids Res 31: 5635-5643
Xu X, Yang D, Ding JH, Wang W, Chu PH, Dalton ND, Wang HY, Bermingham JR Jr, Ye Z, Liu F, Rosenfeld MG, Manley JL, Ross J Jr, Chen J, Xiao RP, Cheng H, Fu XD (2005) ASF/SF2-regulated CaMKIIdelta alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle. Cell 120: 59-72
Yang JH, Nie Y, Zhao Q, Su Y, Pypaert M, Su H, Rabinovici R (2003) Intracellular localization of differentially regulated RNA-specific adenosine deaminase isoforms in inflammation. J Biol Chem 278: 45833-45842
Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilova K, Kozich V, Zavad’akova P (2002) CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. J Inherit Metab Dis 25: 461-476
Zavadakova P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V (2005) cblE type of homocystinuria due to methionine synthase reduc-tase deficiency: functional correction by minigene expression. Hum Mutat 25: 239-247
Zhang ML, Lorson CL, Androphy EJ, Zhou J (2001) An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther 8: 1532-1538
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Novoyatleva, T., Tang, Y., Rafalska, I., Stamm, S. (2006). Pre-mRNA Missplicing as a Cause of Human Disease. In: Jeanteur, P. (eds) Alternative Splicing and Disease. Progress in Molecular and Subcellular Biology, vol 44. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-34449-0_2
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