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Details on Person D'Eustachio, Peter, 2021-06-16
| Class:Id | InstanceEdit:9734263 |
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| _displayName | D'Eustachio, Peter, 2021-06-16 |
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| _timestamp | 2021-06-16 19:54:30 |
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| author | [Person:140934] D'Eustachio, Peter |
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| dateTime | 2021-06-16 19:54:24 |
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| (created) | [EntityWithAccessionedSequence:9734264] HPRT1 G140D [cytosol] [Homo sapiens]
[Person:9734265] Davidson, Beverly L
[Person:9734266] Randall, M
[DefinedSet:9734267] HPRT1 tetramer mutants [cytosol] [Homo sapiens]
[Person:9734268] Laróvere, L E
[EntityWithAccessionedSequence:9734269] HPRT1 D194N [cytosol] [Homo sapiens]
[LiteratureReference:9734270] Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene
[Complex:9734271] HPRT1 G70E tetramer [cytosol] [Homo sapiens]
[ReplacedResidue:9734272] glycine 140 replaced with L-aspartic acid
[LiteratureReference:9734273] Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts |
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| (modified) | [Complex:74208] HPRT1 tetramer [cytosol] [Homo sapiens]
[CatalystActivity:74210] purine phosphoribosyltransferase activity of HPRT1 tetramer [cytosol]
[Reaction:74215] HPRT1 catalyzes the conversion of guanine or hypoxanthine to GMP or IMP [Homo sapiens]
[PathwayDiagram:8956392] Diagram of Nucleotide salvage, Defective APRT disrupts adenine salvage, Defective HPRT1 disrupts guanine and hypoxanthine salvage, and Defective ADA disrupts (deoxy)adenosine deamination
[Summation:9734182] Normally in humans, adenine formed in processes such as poly...
[EntityWithAccessionedSequence:9734183] APRT D65V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9734184] APRT M136T [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9734191] APRT L110P [cytosol] [Homo sapiens]
[Summation:9734194] Normally in humans, adenine generated in processes such as p... |
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No pathways have been reviewed or authored by D'Eustachio, Peter, 2021-06-16 (9734263)
