| Literature DB >> 7605804 |
K Friderici1, K T Cavanagh, J R Leipprandt, C E Traviss, D S Anson, J J Hopwood, M Z Jones.
Abstract
Mucopolysaccharidosis IIID results from the deficiency of N-acetylglucosamine 6-sulfatase activity. A Nubian goat with this lysosomal storage disease has been identified. As a first step in developing this animal model for testing treatment methods, we cloned and sequenced the caprine N-acetylglucosamine 6-sulfatase cDNA coding region. Overall there is 88% nucleotide homology between the goat and human sequence and 94% homology of the deduced amino acid sequence. The human and two ruminant species differ by the presence of an imperfect trinucleotide (CCG) repeat in the ruminant signal sequence.Entities:
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Year: 1995 PMID： 7605804 DOI： 10.1016/0925-4439(95)00054-8
Source DB: PubMed Journal: Biochim Biophys Acta ISSN： 0006-3002