{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T20:57:16Z","timestamp":1725656236859},"publisher-location":"Berlin, Heidelberg","reference-count":23,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"type":"print","value":"9783642257513"},{"type":"electronic","value":"9783642257520"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011]]},"DOI":"10.1007\/8904_2011_83","type":"book-chapter","created":{"date-parts":[[2011,10,19]],"date-time":"2011-10-19T07:24:29Z","timestamp":1319009069000},"page":"117-124","source":"Crossref","is-referenced-by-count":4,"title":["Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha\/Beta (GNPTAB) Gene in a MLII Alpha\/Beta Patient"],"prefix":"10.1007","author":[{"given":"Maria Francisca","family":"Coutinho","sequence":"first","affiliation":[]},{"given":"Liliana","family":"da Silva Santos","sequence":"additional","affiliation":[]},{"given":"L\u00facia","family":"Lacerda","sequence":"additional","affiliation":[]},{"given":"Sofia","family":"Quental","sequence":"additional","affiliation":[]},{"given":"Flemming","family":"Wibrand","sequence":"additional","affiliation":[]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[]},{"given":"Klaus B.","family":"Johansen","sequence":"additional","affiliation":[]},{"given":"Maria Jo\u00e3o","family":"Prata","sequence":"additional","affiliation":[]},{"given":"Sandra","family":"Alves","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2011,10,20]]},"reference":[{"key":"83_CR1","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1006\/mgme.1999.2864","volume":"67","author":"PL Deininger","year":"1999","unstructured":"Deininger PL, Batzer MA (1999) Alu repeats and human disease. Mol Genet Metab 67:183\u201393","journal-title":"Mol Genet Metab"},{"key":"83_CR2","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1111\/j.1399-0004.2009.01185.x","volume":"76","author":"M Encarna\u00e7\u00e3o","year":"2009","unstructured":"Encarna\u00e7\u00e3o M, Lacerda L, Costa R et al (2009) Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. Clin Genet 76:76\u201384","journal-title":"Clin Genet"},{"key":"83_CR3","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1002\/humu.20948","volume":"30","author":"G Franke","year":"2009","unstructured":"Franke G, Bausch B, Hoffmann MM et al (2009) Alu-Alu recombination underlies the vast majority of large VHL germline deletions: molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat 30:776\u201386","journal-title":"Hum Mutat."},{"key":"83_CR4","doi-asserted-by":"publisher","first-page":"1776","DOI":"10.1038\/sj.jid.5700339","volume":"126","author":"C Has","year":"2006","unstructured":"Has C, Wessagowit V, Pascucci M et al (2006) Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu\/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol 126:1776\u201383","journal-title":"J Invest Dermatol"},{"key":"83_CR5","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1093\/hmg\/4.4.675","volume":"4","author":"B Knebelmann","year":"1995","unstructured":"Knebelmann B, Forestier L, Drouot L et al (1995) Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Hum Mol Genet 4:675\u20139","journal-title":"Hum Mol Genet."},{"key":"83_CR6","first-page":"3421","volume-title":"The metabolic and molecular bases of inherited disease","author":"S Kornfeld","year":"2001","unstructured":"Kornfeld S, Sly WS (2001) I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localisation. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3421\u201342","edition":"8"},{"key":"83_CR7","doi-asserted-by":"publisher","first-page":"1288","DOI":"10.1126\/science.1082588","volume":"300","author":"G Lev-Maor","year":"2003","unstructured":"Lev-Maor G, Sorek R, Shomron N et al (2003) The birth of an alternatively spliced exon: 3\u2032 splice-site selection in Alu exons. Science 300:1288\u201391","journal-title":"Science."},{"key":"83_CR8","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1002\/humu.20969","volume":"30","author":"D Meili","year":"2009","unstructured":"Meili D, Kralovicova J, Zagalak J et al (2009) Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Hum Mutat 30:823\u201331","journal-title":"Hum Mutat"},{"key":"83_CR9","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1073\/pnas.88.3.815","volume":"88","author":"GA Mitchell","year":"1991","unstructured":"Mitchell GA, Labuda D, Fontaine G et al (1991) Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. Proc Natl Acad Sci 88:815\u20139","journal-title":"Proc Natl Acad Sci."},{"key":"83_CR10","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1038\/jhg.2009.3","volume":"54","author":"T Otomo","year":"2009","unstructured":"Otomo T, Muramatsu T, Yorifuji T et al (2009) Mucolipidosis II and III alpha\/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet 54:145\u201351","journal-title":"J Hum Genet"},{"key":"83_CR11","doi-asserted-by":"publisher","first-page":"1676","DOI":"10.1002\/humu.21118","volume":"30","author":"B P\u00e9rez","year":"2009","unstructured":"P\u00e9rez B, Rinc\u00f3n A, Jorge-Finnigan A et al (2009) Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria). Hum Mutat 30:1676\u201382","journal-title":"Hum Mutat"},{"key":"83_CR12","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1111\/j.1399-0004.2009.01172.x","volume":"75","author":"R Quental","year":"2009","unstructured":"Quental R, Azevedo L, Rubio V et al (2009) Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene. Clin Genet 75:457\u201364","journal-title":"Clin Genet"},{"issue":"4","key":"83_CR13","first-page":"463","volume":"20","author":"S Quental","year":"2008","unstructured":"Quental S, Martins E, Vilarinho L et al (2008) Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. J Inherit Metab Dis 20(4):463\u2013472","journal-title":"J Inherit Metab Dis."},{"key":"83_CR14","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1172\/JCI5826","volume":"105","author":"A Raas-Rothschild","year":"2000","unstructured":"Raas-Rothschild A, Cormier-Daire V, Bao M et al (2000) Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J Clin Invest 105:673\u2013681","journal-title":"J Clin Invest"},{"key":"83_CR15","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/S1097-2765(04)00181-9","volume":"14","author":"R Sorek","year":"2004","unstructured":"Sorek R, Lev-Maor G, Reznik M et al (2004) Minimal conditions for exonization of intronic sequences: 5\u2032 splice site formation in alu exons. Mol Cell 14:221\u201331","journal-title":"Mol Cell."},{"key":"83_CR16","doi-asserted-by":"publisher","first-page":"E956","DOI":"10.1002\/humu.21099","volume":"30","author":"B Tappino","year":"2009","unstructured":"Tappino B, Chuzhanova NA, Regis S et al (2009) Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha\/beta and IIIalpha\/beta in 46 patients. Hum Mutat 30:E956\u2013E973","journal-title":"Hum Mutat"},{"key":"83_CR17","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1016\/j.ymgme.2007.09.010","volume":"93","author":"B Tappino","year":"2008","unstructured":"Tappino B, Regis S, Corsolini F et al (2008) An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II. Mol Genet Metab 93:129\u201333","journal-title":"Mol Genet Metab."},{"key":"83_CR18","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.bbadis.2008.09.017","volume":"1792","author":"J Tazi","year":"2009","unstructured":"Tazi J, Bakkour N, Stamm S (2009) Alternative splicing and disease. Biochim Biophys Acta 1792:14\u201326","journal-title":"Biochim Biophys Acta."},{"key":"83_CR19","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1002\/humu.9293","volume":"24","author":"S Tiede","year":"2004","unstructured":"Tiede S, Cantz M, Raas-Rothschild A et al (2004) A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. Hum Mutat 24:535\u2013536","journal-title":"Hum Mutat"},{"key":"83_CR20","first-page":"686","volume":"103","author":"R Vervoort","year":"1998","unstructured":"Vervoort R, Gitzelmann R, Lissens W et al (1998) A mutation (IVS8\u2009+\u20090.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene. Hum Genet 103:686\u201393","journal-title":"Hum Genet"},{"key":"83_CR21","doi-asserted-by":"publisher","first-page":"e109","DOI":"10.1371\/journal.pgen.0030109","volume":"3","author":"M Wood","year":"2007","unstructured":"Wood M, Yin H, McClorey G (2007) Modulating the expression of disease genes with RNA-based therapy. PLoS Genet 3:e109","journal-title":"PLoS Genet."},{"key":"83_CR22","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1089\/1066527041410418","volume":"11","author":"G Yeo","year":"2004","unstructured":"Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377\u2013394","journal-title":"J Comput Biol"},{"key":"83_CR23","doi-asserted-by":"publisher","first-page":"2753","DOI":"10.1002\/ajmg.a.33134","volume":"149A","author":"M Zarghooni","year":"2009","unstructured":"Zarghooni M, Dittakavi SS (2009) Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. Am J Med Genet 149A:2753\u201361","journal-title":"Am J Med Genet"}],"container-title":["JIMD Reports","JIMD Reports - Case and Research Reports, 2012\/1"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2011_83","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T14:57:59Z","timestamp":1557500279000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2011_83"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"ISBN":["9783642257513","9783642257520"],"references-count":23,"URL":"https:\/\/doi.org\/10.1007\/8904_2011_83","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"type":"print","value":"2192-8304"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2011]]}}}