Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1996-7-25
pubmed:databankReference
pubmed:abstractText
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.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-1327779, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-1463457, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-1783617, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-1827944, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-1883197, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-1907336, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-2020552, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-2314256, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-2349213, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-2440339, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-2461560, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-2556907, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-2687159, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-3714490, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-3921297, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-3943125, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-4006900, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-411658, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-6796310, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-7493035, http://linkedlifedata.com/resource/pubmed/commentcorrection/8650226-8394763
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:day
11
pubmed:volume
93
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
6101-5
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
The molecular basis of Sanfilippo syndrome type B.
pubmed:affiliation
Department of Biological Chemistry, Brain Research Institute and Molecular Biology Institute, University of California at Los Angeles, 90095-1737, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't