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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1994-3-1
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pubmed:databankReference |
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pubmed:abstractText |
Human galactocerebrosidase, the enzyme deficient in Krabbe disease, was purified, through several hydrophobic column steps and gel filtration, 22,650-fold from human lymphocytes. Using information on its N-terminal and internal amino acid sequences, and the polymerase chain reaction method, we cloned a full-length cDNA for the enzyme. The deduced amino acid sequence matched all amino acid sequences determined. The 3780 nucleotide sequence included 2007 nucleotides which encoded a single chain peptide of 669 amino acid residues with a 26 amino acid N-terminal signal peptide and six potential asparagine-linked glycosylation sites. The galactocerebrosidase cDNA detected an about 4 kb mRNA band material in human cultured skin fibroblasts. A nonsense mutation was found at codon 369 (GAA-->TAA) in the coding sequence of cDNA amplified from cultured skin fibroblast mRNA from a patient with typical Krabbe disease.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0006-291X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
28
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pubmed:volume |
198
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
485-91
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8297359-Amino Acid Sequence,
pubmed-meshheading:8297359-Base Sequence,
pubmed-meshheading:8297359-Cells, Cultured,
pubmed-meshheading:8297359-Cloning, Molecular,
pubmed-meshheading:8297359-DNA, Complementary,
pubmed-meshheading:8297359-Fibroblasts,
pubmed-meshheading:8297359-Galactosylceramidase,
pubmed-meshheading:8297359-Humans,
pubmed-meshheading:8297359-Leukodystrophy, Globoid Cell,
pubmed-meshheading:8297359-Lymphocytes,
pubmed-meshheading:8297359-Molecular Sequence Data,
pubmed-meshheading:8297359-Mutation,
pubmed-meshheading:8297359-Polymerase Chain Reaction,
pubmed-meshheading:8297359-Protein Precursors,
pubmed-meshheading:8297359-Protein Sorting Signals,
pubmed-meshheading:8297359-RNA, Messenger,
pubmed-meshheading:8297359-Sequence Analysis, DNA,
pubmed-meshheading:8297359-Skin
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pubmed:year |
1994
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pubmed:articleTitle |
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.
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pubmed:affiliation |
Department of Pediatrics, Osaka University School of Medicine, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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