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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 |
2005-7-18
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pubmed:abstractText |
Possession of the nonsense mutation in AMPD 1 C34T gene has been linked to improved survival in patients with heart failure, possibly by promoting the formation of adenosine. This mutation is known to decrease the activity of AMP-deaminase in skeletal muscle. We have found that the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes of adenine nucleotide metabolism. Protective mechanism of this mutation may be thus induced by local cardiac metabolic changes.
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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:issn |
1525-7770
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
24
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
287-8
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pubmed:meshHeading |
pubmed-meshheading:16021918-AMP Deaminase,
pubmed-meshheading:16021918-Adenine,
pubmed-meshheading:16021918-Adenosine,
pubmed-meshheading:16021918-Adenosine Monophosphate,
pubmed-meshheading:16021918-Biopsy,
pubmed-meshheading:16021918-Chromatography, High Pressure Liquid,
pubmed-meshheading:16021918-Codon, Nonsense,
pubmed-meshheading:16021918-Genotype,
pubmed-meshheading:16021918-Heterozygote,
pubmed-meshheading:16021918-Humans,
pubmed-meshheading:16021918-Mutation,
pubmed-meshheading:16021918-Myocardium,
pubmed-meshheading:16021918-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:16021918-Polymorphism, Single-Stranded Conformational
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pubmed:year |
2005
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pubmed:articleTitle |
AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart.
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pubmed:affiliation |
Heart Science Centre, Imperial College at Harefield Hospital, Harefield, Middlesex, UK. K.Kalsi@imperial.ac.uk
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pubmed:publicationType |
Journal Article
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