Reactome | Bonthron, DT

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created	[InstanceEdit:469706] D'Eustachio, P, 2010-01-25
dbId	469719
displayName	Bonthron, DT
firstname	David T
initial	DT
modified	[InstanceEdit:5656436] D'Eustachio, Peter, 2014-12-12
publications	[LiteratureReference:469711] Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase) [LiteratureReference:469724] Structures of alternatively spliced isoforms of human ketohexokinase [LiteratureReference:5652057] Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria [LiteratureReference:5659947] Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome [LiteratureReference:5675279] Both isoforms of ketohexokinase are dispensable for normal growth and development [LiteratureReference:5675305] Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice [LiteratureReference:3247931] Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Gouti�res syndrome at the AGS1 locus [LiteratureReference:5661410] Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis [LiteratureReference:8866588] Mutations involved in Aicardi-Gouti�res syndrome implicate SAMHD1 as regulator of the innate immune response
schemaClass	Person
surname	Bonthron

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