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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
19
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pubmed:dateCreated |
1983-10-28
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pubmed:abstractText |
A disease discovered in three Plott Hound littermates was found to be associated with a profound and specific deficiency of alpha-L-iduronidase (mucopolysaccharide alpha-L-iduronohydrolase; EC 3.2.1.76) in fibroblasts and leukocytes. The pedigree was consistent with autosomal recessive inheritance. A markedly increased amount of dermatan sulfate and heparan sulfate was excreted in urine. Fibroblasts cultured from the skin of the affected dogs accumulated excessive 35S-labeled mucopolysaccharide; this accumulation could be decreased to a normal level by exogenous human high-uptake alpha-L-iduronidase (Hurler corrective factor) as well as by secretions of normal human or canine fibroblasts. The correction was inhibited by mannose 6-phosphate. Maturation of alpha-L-iduronidase in normal canine fibroblasts followed the pathway previously observed in human fibroblasts; no cross-reactive material was observed in the cells or in secretions from the fibroblasts of the affected dogs. The canine disorder thus resembles mucopolysaccharidosis I in all biochemical parameters tested; the clinical appearance of the animals is closest to Hurler-Scheie syndrome, a form of alpha-L-iduronidase deficiency of intermediate severity. The animal model should prove valuable for therapeutic experiments.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-117422,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-123832,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-131847,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-14297872,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-144321,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-266721,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-26836,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-287030,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-287076,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-30407,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-404709,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-4236091,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-4257494,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-4268054,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-44841,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-4673577,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-5120520,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-5478365,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-573013,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-6116856,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-6173762,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-6215865,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-6279685,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-6410119,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-6959123,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-6989821,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-7189903,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-7202025,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-7204389,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-7213340,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-7228876,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-7417782,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-818571,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-824730,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6412235-922886
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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 |
Oct
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pubmed:issn |
0027-8424
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
80
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
6091-5
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:6412235-Animals,
pubmed-meshheading:6412235-Cells, Cultured,
pubmed-meshheading:6412235-Disease Models, Animal,
pubmed-meshheading:6412235-Dog Diseases,
pubmed-meshheading:6412235-Dogs,
pubmed-meshheading:6412235-Female,
pubmed-meshheading:6412235-Fibroblasts,
pubmed-meshheading:6412235-Glycoside Hydrolases,
pubmed-meshheading:6412235-Humans,
pubmed-meshheading:6412235-Iduronidase,
pubmed-meshheading:6412235-Leukocytes,
pubmed-meshheading:6412235-Lysosomes,
pubmed-meshheading:6412235-Male,
pubmed-meshheading:6412235-Mucopolysaccharidosis I,
pubmed-meshheading:6412235-Pedigree,
pubmed-meshheading:6412235-Skin
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pubmed:year |
1983
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pubmed:articleTitle |
A canine model of human alpha-L-iduronidase deficiency.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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