HPRT1 Antibody

1. 75% of Hypoxanthine-guanine phosphoribosyltransferase (HPRT)-deficiency carrier females presented skewed X chromosome inactivation (XCI) . Moreover, skewed XCI is significantly more frequent in Lesch-Nyhan disease (LND) carriers (83%) than in Lesch-Nyhan variant (LNV, 0-50%, depending on the phenotype severity). PMID: 28904386
2. mutation in the human HPRT1 gene and the Lesch-Nyhan disease PMID: 29185864
3. Lesch-Nyhan disease in two families from Chiloe Island with mutations in the HPRT1 gene PMID: 28524722
4. The results suggest that no singular distal regulatory element is required for HPRT1 expression and that distal mutations are unlikely to contribute substantially to Lesch-Nyhan syndrome burden. PMID: 28712454
5. product release from these HsHGPRT and PfHGXPRT PMID: 27404508
6. A missense mutation in exon 6 of the coding region of the HPRT1 gene contributes to Lesch-Nyhan Syndrome. PMID: 27379977
7. A novel duplication mutation (c.372dupT, c.372_374 TTT > c.372_375 TTTT) was identified in exon 4 of the HPRT1, which causes aberrant splicing. PMID: 27754763
8. Three novel independent mutations in the coding region of the HPRT1 gene are responsible for the HPRT1 deficiency. PMID: 28045594
9. HPRTYale variant was identified as pathogenic in a family affected with Lesch-Nyhan syndrome. PMID: 27420966
10. Pseudogene-free amplification of HPRT1 in quantitative reverse transcriptase polymerase chain reaction. PMID: 26050630
11. HPRT gene mutation assay demonstrated that surface chemical composition plays a significant role in silver nanoparticle toxicity. PMID: 26204901
12. Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene PMID: 25965333
13. A highly significant correlation between six metabolites and the HGprt deficiency was established, each of them providing an easily measurable marker of the disease. PMID: 25612837
14. HPRT mutations are not increased by systemic depleted uranium exposure. PMID: 25914368
15. 13 novel mutations in Saudi Arabian HPRT-related hyperuricemia patients manifesting different levels of uric acid. PMID: 25136576
16. HPRT1 mutations in new Japanese families and PRPP concentration PMID: 24940672
17. Our studies suggest that the p.Leu68Pro mutation has a strong impact on PRPP binding and on stability of the active conformation. PMID: 24075303
18. In the study presented here, for the first time T-705/favipiravir absolutely depends on the cellular HGPRT enzyme to exert its anti-influenza virus activity in mammalian cells. PMID: 23907213
19. Molecular genetic testing revealed a new frameshift mutation in the HPRT1 gene causing Lesch-Nyhan syndrome in an Indian family. PMID: 22183764
20. study reports three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three Lesch-Nyhan syndrome affected male patients PMID: 23473102
21. Such protein-protein interactions with HPRT1 are predicted to be impaired for the long or short forms of ALDH16A1*2. PMID: 23348497
22. Identification of increased expression of the microRNA miR181a in HPRT-deficient human dopaminergic SH-SY5Y neuroblastoma cells. PMID: 22042773
23. The housekeeping gene HPRT regulates purinergic signaling in pluripotent human stem cells. This regulation occurs at least partly through aberrant P2Y1-mediated expression and signaling. PMID: 22331909
24. Mutations in Asian families with patients manifesting different clinical phenotypes, including rare cases of female subjects, by analyzing all nine exons of the HPRT gene, were identified. PMID: 22132982
25. These results confirm the extraordinary variety and complexity of mutations in HPRT deficiency. PMID: 22132984
26. Three HPRT1 mutations in Lesch-Nyhan families were identified but no mutation was identified in any patient in the analysis of PRPS1. PMID: 22132986
27. Report lack of any common mutation causing HPRT deficiency in Poland. PMID: 19016344
28. The study reports five novel independent mutations in the coding region of the HPRT gene from five unrelated male patients manifesting different clinical phenotypes associated with Lesch-Nyhan Syndrome. PMID: 21780909
29. Human hypoxanthine guanine phosphoribosyltransferase (HGPRT) catalyzes the phosphoribosylation of guanine and hypoxanthine, while Plasmodium falciparum HGPRT acts on xanthine as well. PMID: 21486037
30. dysregulated Wnt signaling and presenilin-1 expression together with impaired expression of dopaminergic transcription factors reveal broad pleitropic neuro-regulatory defects played by HPRT expression PMID: 21305049
31. The loss of the guanine effect in a cell line bearing a mutated inactive HGPRT, and the decreased potency of GUA in U87 cells silenced for HGPRT transcripts, demonstrates the role of the intracellular metabolism of GUA for growth-inhibitory effects. PMID: 20536392
32. the clinical features of ten patients from eight unrelated families with the c.143G>A mutation in HPRT1 were compared. PMID: 20981450
33. In four hyperuricemic patients with mild neurological abnormality, no mutations responsible for partial HPRT deficiency were identified in HPRT1. PMID: 20544509
34. The promoter region methylation status of these five HPRT deficient patients was similar to that of normal subjects. PMID: 20544511
35. Sequence analysis of DNA and RNA showed correction of the HPRT1 mutation. Random integration was not indicated after transfection of the mutant cells with an SDF comprised of green fluorescent protein (GFP) sequences are not found in human genomic DNA PMID: 19995283
36. Use of HPRT1 gene for validation studies of internal controls for expression studies in aging is reported. PMID: 20038437
37. hypoxanthine-guanine phosphoribosyltransferase PMID: 19672249
38. recurrent large Alu-mediated deletion associated with Lesch-Nyhan syndrome PMID: 11668636
39. High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays. PMID: 11714443
40. This report highlights the unusual occurrence of recurrent acute renal failure in a child with partial HPRT enzyme deficiency. PMID: 11891689
41. A comparative spectral analysis of somatic mutations at the HPRT reporter gene locus in healthy children revealed an age-specific decrease in large alterations and a corresponding increase in small alterations with increasing age. PMID: 12175903
42. HPRT and G6PD origins of replication that are functional in the active X chromosome are utilized even when the two genes are transcriptionally silent in the inactive X chromosome PMID: 12616531
43. In children with cancer there is no significant increase in background HPRT mutation frequency. PMID: 12874812
44. elevated HPRT mutation rates in a colon cancer cell line are caused by mutations in the MSH6 gene, and not in the POLD1 gene PMID: 14767555
45. how mutable and nonmutated amino acid residues in the HPRT monomer correlate with sequence conservation and predicted phenotypic effects PMID: 15146465
46. mutation of F36 residue in the core of the protein affects the stability of the enzyme PMID: 15178494
47. Mutation in the HPRT1 allele at the DNA and RNA levels in Lesch-Nyhan disease blastocyst. PMID: 15277709
48. summary of mutations in HPRT1 causing HPRT deficiency PMID: 15571220
49. a mutation of ATT to ACT (substitution of isoleucine to threonine) was found in codon 137 of HPRT in a patient with partial deficiency of the enzyme PMID: 15571222
50. analysis of exons of HPRT from the genomic DNA of Asian HPRT deficient families PMID: 15571223

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HGNC: 5157

OMIM: 300322

KEGG: hsa:3251

STRING: 9606.ENSP00000298556

UniGene: Hs.412707