Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL et al.
European Journal of Human Genetics : Ejhg, 2021
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
26495027 (PubMed )
Supplement: 124630.f1.zip › mat.124630.v2 › Table_S2.xlsx › Acetylation
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Ceballos-Picot I et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
Adenine phosphoribosyltransferase deficiency in children.
Harambat J et al.
Pediatric Nephrology (berlin, Germany), 2012
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Silva M et al.
Biochemistry, 2004
Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani.
Phillips CL et al.
The Embo Journal, 1999
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
Sahota A et al.
Human Molecular Genetics, 1994
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