{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,16]],"date-time":"2024-09-16T19:35:52Z","timestamp":1726515352184},"reference-count":20,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Kinderen en Kansen"},{"name":"Stichting Stofwisselkracht"},{"name":"Zabawas"},{"DOI":"10.13039\/501100009622","name":"Zeldzame Ziekten Fonds","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100009622","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1016\/j.ymgme.2017.07.005","type":"journal-article","created":{"date-parts":[[2017,7,12]],"date-time":"2017-07-12T19:31:48Z","timestamp":1499887908000},"page":"100-106","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Processing of mutant N -acetyl-\u03b1-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature"],"prefix":"10.1016","volume":"122","author":[{"given":"O.L.M.","family":"Meijer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"te Brinke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Ofman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"IJlst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.A.","family":"Wijburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"van Vlies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"Suppl. 5","key":"10.1016\/j.ymgme.2017.07.005_bb0005","doi-asserted-by":"crossref","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","article-title":"Overview of the mucopolysaccharidoses","volume":"50","author":"Muenzer","year":"2011","journal-title":"Rheumatology"},{"key":"10.1016\/j.ymgme.2017.07.005_bb0010","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1007\/s10545-010-9199-y","article-title":"Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype","volume":"33","author":"Valstar","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0015","first-page":"93","article-title":"Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts","volume":"36","author":"von Figura","year":"1984","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0020","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/BF01923507","article-title":"The early and late processing of lysosomal enzymes: proteolysis and compartmentation","volume":"48","author":"Hasilik","year":"1992","journal-title":"Experientia"},{"key":"10.1016\/j.ymgme.2017.07.005_bb0025","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.bbamcr.2008.10.016","article-title":"Sorting of lysosomal proteins","volume":"1793","author":"Braulke","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2017.07.005_bb0030","doi-asserted-by":"crossref","first-page":"1720","DOI":"10.1073\/pnas.69.7.1720","article-title":"Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients","volume":"69","author":"O'Brien","year":"1972","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0035","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s10545-016-9916-2","article-title":"Residual N-acetyl-\u03b1-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB","volume":"39","author":"Meijer","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0040","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1086\/301682","article-title":"Genotype-phenotype correspondence in Sanfilippo syndrome type B","volume":"62","author":"Zhao","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0045","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/sj.ejhg.5200242","article-title":"Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes","volume":"7","author":"Weber","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0050","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/S0304-3940(02)01423-4","article-title":"Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data","volume":"339","author":"Ramakers","year":"2003","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0055","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1093\/hmg\/5.6.771","article-title":"Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)","volume":"5","author":"Weber","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0060","first-page":"2615","article-title":"Proteasome inhibitors: a novel class of potent and effective antitumor agents","volume":"59","author":"Adams","year":"1999","journal-title":"Cancer Res."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0065","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1002\/bit.20789","article-title":"The cold-shock response in cultured mammalian cells: harnessing the response for the improvement of recombinant protein production","volume":"93","author":"Al-Fageeh","year":"2006","journal-title":"Biotechnol. Bioeng."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0070","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1111\/j.1742-4658.2008.06781.x","article-title":"Biochemical insights into the mechanisms central to the response of mammalian cells to cold stress and subsequent rewarming","volume":"276","author":"Roobol","year":"2009","journal-title":"FEBS J."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0075","first-page":"243","article-title":"Cold shock response in mammalian cells","volume":"1","author":"Fujita","year":"1999","journal-title":"J. Mol. Microbiol. Biotechnol."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0080","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1073\/pnas.0409764102","article-title":"Cold stress-induced protein Rbm3 binds 60S ribosomal subunits, alters microRNA levels, and enhances global protein synthesis","volume":"102","author":"Dresios","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0085","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1042\/BJ20060166","article-title":"Control and regulation of the cellular responses to cold shock: the responses in yeast and mammalian systems","volume":"397","author":"Al-Fageeh","year":"2006","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0090","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1093\/nar\/28.6.1307","article-title":"Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA","volume":"28","author":"Ars","year":"2000","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2017.07.005_bb0095","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0069687","article-title":"Effects of mild cold shock (25\u00b0C) followed by warming up at 37\u00b0C on the cellular stress response","volume":"8","author":"Neutelings","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2017.07.005_bb0100","doi-asserted-by":"crossref","first-page":"S103","DOI":"10.1016\/j.ymgme.2016.11.259","article-title":"Phenotypic severity in MPS IIIA strongly correlates with increase in residual SGSH activity in skin fibroblasts cultured at 30\u00b0C","volume":"120","author":"Nijmeijer","year":"2017","journal-title":"Mol. Genet. Metab."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217303001?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217303001?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T02:19:24Z","timestamp":1589768364000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217303001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":20,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["S1096719217303001"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.07.005","relation":{},"ISSN":["1096-7192"],"issn-type":[{"type":"print","value":"1096-7192"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Processing of mutant N-acetyl-\u03b1-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.07.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}