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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9-11
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pubmed:dateCreated |
2006-10-26
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pubmed:abstractText |
beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-ss-aminoisobutyric acid or N-carbamyl-ss-alanine to beta-aminoisobutyric acid or ss-alanine, ammonia, and CO2. Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). RT-PCR analysis of the complete beta-ureidopropionase cDNA suggested that both splice-site mutations lead to a variety of alternative splice variants, with deletions of a single or several exons. The alanine at position 85 was not conserved in other eukaryotic beta-ureidopropionase protein sequences.
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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 |
pubmed-author:AbelingN G G MNG,
pubmed-author:AssmanBB,
pubmed-author:BuschRR,
pubmed-author:HoffmanG FGF,
pubmed-author:LorenteII,
pubmed-author:MayatepekEE,
pubmed-author:MeinsmaRR,
pubmed-author:RibesAA,
pubmed-author:RutschFF,
pubmed-author:VoitTT,
pubmed-author:WeversR ARA,
pubmed-author:van GennipA HAH,
pubmed-author:van KuilenburgA B PAB
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pubmed:issnType |
Print
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pubmed:volume |
25
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1093-8
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pubmed:meshHeading |
pubmed-meshheading:17065070-Amidohydrolases,
pubmed-meshheading:17065070-Amino Acid Sequence,
pubmed-meshheading:17065070-Animals,
pubmed-meshheading:17065070-DNA, Complementary,
pubmed-meshheading:17065070-DNA Primers,
pubmed-meshheading:17065070-Exons,
pubmed-meshheading:17065070-Humans,
pubmed-meshheading:17065070-Leukocytes, Mononuclear,
pubmed-meshheading:17065070-Models, Genetic,
pubmed-meshheading:17065070-Molecular Sequence Data,
pubmed-meshheading:17065070-Mutation,
pubmed-meshheading:17065070-Polymerase Chain Reaction,
pubmed-meshheading:17065070-Purine-Pyrimidine Metabolism, Inborn Errors
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pubmed:year |
2006
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pubmed:articleTitle |
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
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pubmed:affiliation |
Department of Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, Amsterdam, The Netherlands. a.b.vanKuilenburg@amc.uva.nl
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pubmed:publicationType |
Journal Article
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