HGPRT deficiency with normal PRPP and APRT activity: 60
نویسندگان
چکیده
منابع مشابه
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
BACKGROUND Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified as responsible of the complete inactivation of APRT protein. CASE PRESENTATION In this study, we report...
متن کاملRecurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria
PURPOSE OF REVIEW To provide transplant physicians with a summary of the pathogenesis and diagnosis of adenine phosphoribosyl transferase (APRT) deficiency and primary hyperoxaluria and, focussed on kidney transplantation, and to discuss interventions aimed at preventing and treating the recurrence of crystalline nephropathy in renal transplant recipients. SOURCE OF INFORMATION Pubmed literat...
متن کاملcomparison of lipoamide dehydrogenase activity in hl-60 leukemia cells and normal lymphocyte
to determine the importance of q 10 h 2 as an antioxidant in cancer, we measured the activity of lipoamide dehydrogenase (q 10 h 2 recycling enzyme) in hl-60 and normal lymphocyte. the cultured cells of hl-60 and human normal lymphocytes were assayed in cell lysate of given number of both hl-60 and normal lymphocyte. the activity of lipoamide dehydrogenase and the protein concentration were det...
متن کاملThe Locus for Human Adenine
Evidence for assigning the locus determining the structure of adenine phosphoribosyltransferase (APRT) to human chromosome No. 16 is presented. Hybrids of APRT-deficient mouse cells and of human fibroblasts having normal APRT were isolated by fusing the parental cells with Sendai virus, blocking de nouo purine nucleotide synthesis with azaserine and selecting for hybrids that could use exogenou...
متن کاملAnalysis of HGPRT- CRM+ human lymphoblast mutants.
Three 6-thioguanine-resistant mutants of the human diploid lymphoblast line MGL-8 were studied. The inactivation by heat of both HGPRT activity and antigenicity of the HGPRT immunologically cross-reacting material of the A30 mutant cells were not protected by PRPP, indicating that the HGPRT in A30 cells has an altered PRPP binding site, leading to lack of stabilization and rapid degradation of ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198507000-00080