{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T18:54:12Z","timestamp":1770058452091,"version":"3.49.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2008,1]]},"DOI":"10.1016\/j.ymgme.2007.08.124","type":"journal-article","created":{"date-parts":[[2007,11,27]],"date-time":"2007-11-27T14:59:56Z","timestamp":1196175596000},"page":"66-73","source":"Crossref","is-referenced-by-count":30,"title":["CLN2\/TPP1 deficiency: The novel mutation IVS7-10A&gt;G causes intron retention and is associated with a mild disease phenotype"],"prefix":"10.1016","volume":"93","author":[{"given":"C.","family":"Bessa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.A.","family":"Teixeira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Dias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Alves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Rocha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Lacerda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Loureiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Guimar\u00e3es","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.G.","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2007.08.124_bib1","doi-asserted-by":"crossref","first-page":"2249","DOI":"10.1074\/jbc.M008562200","article-title":"The human CLN2 protein\/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH","volume":"276","author":"Lin","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2007.08.124_bib2","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1126\/science.277.5333.1802","article-title":"Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis","volume":"277","author":"Sleat","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2007.08.124_bib3","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1086\/302427","article-title":"Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorders","volume":"64","author":"Sleat","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.08.124_bib4","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1006\/mgme.1999.2853","article-title":"Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene","volume":"67","author":"Hartikainen","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2007.08.124_bib5","series-title":"Human Gene Mutation","first-page":"239","article-title":"Single base-pair substitutions in human gene mRNA splice junctions and their phenotypic consequences","author":"Cooper","year":"1993"},{"key":"10.1016\/j.ymgme.2007.08.124_bib6","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00210743","article-title":"The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences","volume":"90","author":"Krawczak","year":"1992","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.08.124_bib7","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1101\/gad.1048803","article-title":"Pre-mRNA splicing and human disease","volume":"17","author":"Faustino","year":"2003","journal-title":"Genes Dev."},{"key":"10.1016\/j.ymgme.2007.08.124_bib8","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/S0955-0674(00)00212-X","article-title":"Pre mRNA splicing in the new millennium","volume":"13","author":"Hastings","year":"2001","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ymgme.2007.08.124_bib9","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1182\/blood.V11.5.436.436","article-title":"Studies on the fibrinogen dextran and phytohemagglutinin methods of isolating leukocytes","volume":"11","author":"Skoog","year":"1956","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2007.08.124_bib10","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with the Folin phenol reagent","volume":"193","author":"Lowry","year":"1951","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2007.08.124_bib11","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1006\/mgme.1999.2809","article-title":"A rapid fluorogenic palmitoyl-protein thioesterase assay: pre-and postnatal diagnosis of INCL","volume":"66","author":"Van Diggelen","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2007.08.124_bib12","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0014-5793(98)01683-4","article-title":"Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I","volume":"443","author":"Vines","year":"1999","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ymgme.2007.08.124_bib13","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ymgme.2006.04.010","article-title":"Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency","volume":"89","author":"Bessa","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2007.08.124_bib14","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1093\/nar\/29.9.e45","article-title":"A new mathematical model for relative quantification in real-time PCR","volume":"29","author":"Pfaffl","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2007.08.124_bib15","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/227680a0","article-title":"Cleavage of structural proteins during the assembly of the head of bacteriophage T4","volume":"227","author":"Laemmli","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ymgme.2007.08.124_bib16","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1006\/jmbi.1997.0951","article-title":"Prediction of complete gene structures in human genomic DNA","volume":"268","author":"Burge","year":"1997","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ymgme.2007.08.124_bib17","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J. Comput. Biol."},{"key":"10.1016\/j.ymgme.2007.08.124_bib18","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s00415-003-1050-z","article-title":"Clinicopathological and molecular charcterization of neuronal ceroid lipofuscinosis in the Portuguese population","volume":"250","author":"Teixeira","year":"2003","journal-title":"J. Neurol."},{"key":"10.1016\/j.ymgme.2007.08.124_bib19","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/humu.10295","article-title":"Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: maximum entropy estimates of splice junction strengths","volume":"23","author":"Eng","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2007.08.124_bib20","doi-asserted-by":"crossref","first-page":"3568","DOI":"10.1093\/nar\/gkg616","article-title":"ESEfinder: a web resource to identify exonic splicing enhancers","volume":"31","author":"Cartegni","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2007.08.124_bib21","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1126\/science.1073774","article-title":"Predictive identification of exonic splicing enhancers in human genes","volume":"297","author":"Fairbrother","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2007.08.124_bib22","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ymgme.2007.08.124_bib23","doi-asserted-by":"crossref","first-page":"4939","DOI":"10.1128\/MCB.13.8.4939","article-title":"Scanning and competition between AGs are involved in 3\u2032 splice site selection in mammalian introns","volume":"13","author":"Smith","year":"1993","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ymgme.2007.08.124_bib24","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1093\/jb\/mvi110","article-title":"Catalytic residues and substrate specificity of recombinant human tripeptidyl peptidase I (CLN2)","volume":"138","author":"Oyama","year":"2005","journal-title":"J. Biochem."},{"key":"10.1016\/j.ymgme.2007.08.124_bib25","first-page":"541","article-title":"Structural and enzymatic properties of the sedolisin family of serine-carboxyl peptidases","volume":"371","author":"Wlodawer","year":"2003","journal-title":"Acta Biochim. Polon."},{"key":"10.1016\/j.ymgme.2007.08.124_bib26","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1472-6807-3-8","article-title":"A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases","volume":"3","author":"Wlodawer","year":"2003","journal-title":"BMC Struct. Biol."},{"key":"10.1016\/j.ymgme.2007.08.124_bib27","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0168-9525(01)02619-1","article-title":"Splicing regulation as a potential genetic modifier","volume":"18","author":"Nissim-Rafinia","year":"2002","journal-title":"Trends Genet."},{"key":"10.1016\/j.ymgme.2007.08.124_bib28","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.tig.2005.07.005","article-title":"The splicing machinery is a genetic modifier of disease severity","volume":"21","author":"Nissim-Rafinia","year":"2005","journal-title":"Trends Genet."},{"key":"10.1016\/j.ymgme.2007.08.124_bib29","doi-asserted-by":"crossref","first-page":"42986","DOI":"10.1074\/jbc.M105113200","article-title":"Correction of the alternative splicing of tau in frontotemporal dementia and Parkinsonism linked to chromosome 17","volume":"276","author":"Kalbfuss","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2007.08.124_bib30","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/S0925-4439(02)00075-3","article-title":"Control of alternative splicing by antisense oligonucleotides as a potential chemotherapy: effects on gene expression","volume":"1587","author":"Mercatante","year":"2002","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2007.08.124_bib31","doi-asserted-by":"crossref","first-page":"2819","DOI":"10.1093\/hmg\/10.24.2841","article-title":"Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients","volume":"10","author":"Andreassi","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2007.08.124_bib32","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/nbt0102-47","article-title":"Partial correction of endogenous DeltaF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing","volume":"20","author":"Liu","year":"2002","journal-title":"Nat. Biotechnol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719207003976?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719207003976?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,8,29]],"date-time":"2021-08-29T07:49:51Z","timestamp":1630223391000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719207003976"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,1]]}},"alternative-id":["S1096719207003976"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2007.08.124","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2008,1]]}}}