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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1995-10-18
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pubmed:abstractText |
Hereditary tyrosinaemia type I, a severe autosomal recessive metabolic disease, affects the liver and kidneys and is caused by deficiency of fumarylacetoacetate hydrolase (FAH). Mice homozygous for a FAH gene disruption have a neonatal lethal phenotype caused by liver dysfunction and do not represent an adequate model of the human disease. Here we demonstrate that treatment of affected animals with 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3-cyclohexanedione abolished neonatal lethality, corrected liver function and partially normalized the altered expression pattern of hepatic mRNAs. The prolonged lifespan of affected animals resulted in a phenotype analogous to human tyrosinaemia type I including hepatocellular carcinoma. The adult FAH-/- mouse will serve as useful model for studies of the pathophysiology and treatment of hereditary tyrosinaemia type I as well as hepatic cancer.
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pubmed:grant |
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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 |
http://linkedlifedata.com/resource/pubmed/chemical/Amino Acids,
http://linkedlifedata.com/resource/pubmed/chemical/Cyclohexanones,
http://linkedlifedata.com/resource/pubmed/chemical/Enzyme Inhibitors,
http://linkedlifedata.com/resource/pubmed/chemical/Heptanoates,
http://linkedlifedata.com/resource/pubmed/chemical/Hydrolases,
http://linkedlifedata.com/resource/pubmed/chemical/Nitrobenzoates,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/Tyrosine,
http://linkedlifedata.com/resource/pubmed/chemical/alpha-Fetoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/fumarylacetoacetase,
http://linkedlifedata.com/resource/pubmed/chemical/nitisinone,
http://linkedlifedata.com/resource/pubmed/chemical/succinylacetone
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1061-4036
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
453-60
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:7545495-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:7545495-Amino Acids,
pubmed-meshheading:7545495-Animals,
pubmed-meshheading:7545495-Cyclohexanones,
pubmed-meshheading:7545495-Disease Models, Animal,
pubmed-meshheading:7545495-Enzyme Inhibitors,
pubmed-meshheading:7545495-Female,
pubmed-meshheading:7545495-Heptanoates,
pubmed-meshheading:7545495-Humans,
pubmed-meshheading:7545495-Hydrolases,
pubmed-meshheading:7545495-Liver,
pubmed-meshheading:7545495-Liver Diseases,
pubmed-meshheading:7545495-Liver Neoplasms,
pubmed-meshheading:7545495-Male,
pubmed-meshheading:7545495-Mice,
pubmed-meshheading:7545495-Mice, Inbred C57BL,
pubmed-meshheading:7545495-Nitrobenzoates,
pubmed-meshheading:7545495-Pancreas,
pubmed-meshheading:7545495-RNA, Messenger,
pubmed-meshheading:7545495-Tyrosine,
pubmed-meshheading:7545495-alpha-Fetoproteins
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pubmed:year |
1995
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pubmed:articleTitle |
Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I.
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pubmed:affiliation |
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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