{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T22:31:06Z","timestamp":1782513066010,"version":"3.54.5"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"12","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1996,6,11]]},"abstract":"<jats:p>The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. For understanding the molecular genetics of the disease and for future development of DNA-based therapy, we have cloned the cDNA and gene encoding alpha-N-acetylglucosaminidase. Cloning started with purification of the bovine enzyme and use of a conserved oligonucleotide sequence to probe a human cDNA library. The cDNA sequence was found to encode a protein of 743 amino acids, with a 20- to 23-aa signal peptide immediately preceding the amino terminus of the tissue enzyme and with six potential N-glycosylation sites. The 8.5-kb gene (NAGLU), interrupted by 5 introns, was localized to the 5'-flanking sequence of a known gene, EDH17B, on chromosome 17q21. Five mutations were identified in cells of patients with Sanfilippo syndrome type B: 503del10, R297X, R626X, R643H, and R674H. The occurrence of a frameshift and a nonsense mutation in homozygous form confirms the identity of the NAGLU gene.<\/jats:p>","DOI":"10.1073\/pnas.93.12.6101","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:32:33Z","timestamp":1027679553000},"page":"6101-6105","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":119,"title":["The molecular basis of Sanfilippo syndrome type B."],"prefix":"10.1073","volume":"93","author":[{"given":"H G","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Biological Chemistry, Brain Research Institute and Molecular Biology Institute, University of California at Los Angeles, 90095-1737, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H H","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry, Brain Research Institute and Molecular Biology Institute, University of California at Los Angeles, 90095-1737, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Bach","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry, Brain Research Institute and Molecular Biology Institute, University of California at Los Angeles, 90095-1737, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Schmidtchen","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry, Brain Research Institute and Molecular Biology Institute, University of California at Los Angeles, 90095-1737, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E F","family":"Neufeld","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry, Brain Research Institute and Molecular Biology Institute, University of California at Los Angeles, 90095-1737, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1996,6,11]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.93.12.6101","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T14:12:50Z","timestamp":1649859170000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.93.12.6101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,6,11]]},"references-count":0,"journal-issue":{"issue":"12","published-print":{"date-parts":[[1996,6,11]]}},"alternative-id":["10.1073\/pnas.93.12.6101"],"URL":"https:\/\/doi.org\/10.1073\/pnas.93.12.6101","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,6,11]]},"assertion":[{"value":"1996-06-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}