메뉴 건너뛰기




Volumn 21, Issue 4, 2010, Pages 679-688

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE PHOSPHORIBOSYLTRANSFERASE;

EID: 77950622631     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2009080808     Document Type: Article
Times cited : (95)

References (43)
  • 1
    • 0014289330 scopus 로고
    • Purine phosphoribosyltransferase activity of human erythrocytes. Technique of determination [in French]
    • Cartier P, Hamet M: Purine phosphoribosyltransferase activity of human erythrocytes. Technique of determination [in French]. Clin Chim Acta 20: 205-214; 1968
    • (1968) Clin Chim Acta , vol.20 , pp. 205-214
    • Cartier, P.1    Hamet, M.2
  • 2
    • 0001814559 scopus 로고    scopus 로고
    • Adenine phos-poribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis
    • 8th Ed., edited by Scriver CR, Baudet AL, Sly WS, Valle D, New York, McGraw-Hill Division
    • Sahota AS, Tischfield JA, Kamatani N, Simmonds HA: Adenine phos-poribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In: The Metabolic and Molecular Bases of Inherited Disease, 8th Ed., edited by Scriver CR, Baudet AL, Sly WS, Valle D, New York, McGraw-Hill Division, 2001, pp. 2571-2584
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2571-2584
    • Sahota, A.S.1    Tischfield, J.A.2    Kamatani, N.3    Simmonds, H.A.4
  • 4
    • 0023736745 scopus 로고
    • 2,8-Dihydroxya-deninuria: Laboratory diagnosis and therapy control
    • Hesse A, Miersch WD, Classen A, Thon A, Doppler W: 2,8-Dihydroxya- deninuria: Laboratory diagnosis and therapy control. Urol Int 43: 174-178, 1988
    • (1988) Urol Int , vol.43 , pp. 174-178
    • Hesse, A.1    Miersch, W.D.2    Classen, A.3    Thon, A.4    Doppler, W.5
  • 6
    • 0027399166 scopus 로고
    • Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure
    • Fye KH, Sahota A, Hancock DC, Gelb AB, Chen J, Sparks JW, Sibley RK, Tischfield JA: Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. Arch Intern Med 153: 767-770, 1993
    • (1993) Arch Intern Med , vol.153 , pp. 767-770
    • Fye, K.H.1    Sahota, A.2    Hancock, D.C.3    Gelb, A.B.4    Chen, J.5    Sparks, J.W.6    Sibley, R.K.7    Tischfield, J.A.8
  • 8
    • 37049037291 scopus 로고    scopus 로고
    • 2,8-Dihydroxyadenine nephrolithia-sis: From diagnosis to therapy [in French]
    • Bouzidi H, Lacour B, Daudon M: 2,8-Dihydroxyadenine nephrolithia-sis: From diagnosis to therapy [in French]. Ann Biol Clin (Paris) 65: 585-592, 2007
    • (2007) Ann Biol Clin (Paris) , vol.65 , pp. 585-592
    • Bouzidi, H.1    Lacour, B.2    Daudon, M.3
  • 9
    • 0019826535 scopus 로고
    • Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT)
    • Doppler W, Hirsch-Kauffmann M, Schabel F, Schweiger M: Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT). Hum Genet 57: 404-410, 1981
    • (1981) Hum Genet , vol.57 , pp. 404-410
    • Doppler, W.1    Hirsch-Kauffmann, M.2    Schabel, F.3    Schweiger, M.4
  • 10
    • 0034877017 scopus 로고    scopus 로고
    • Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland
    • Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T: Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis 38: 473-480, 2001
    • (2001) Am J Kidney Dis , vol.38 , pp. 473-480
    • Edvardsson, V.1    Palsson, R.2    Olafsson, I.3    Hjaltadottir, G.4    Laxdal, T.5
  • 11
    • 0023103597 scopus 로고
    • Genetic and clinical studies on 19 families with adenine phosphoribosyltrans-ferase deficiencies
    • Kamatani N, Terai C, Kuroshima S, Nishioka K, Mikanagi K: Genetic and clinical studies on 19 families with adenine phosphoribosyltrans-ferase deficiencies. Hum Genet 75: 163-168, 1987
    • (1987) Hum Genet , vol.75 , pp. 163-168
    • Kamatani, N.1    Terai, C.2    Kuroshima, S.3    Nishioka, K.4    Mikanagi, K.5
  • 12
    • 0023194576 scopus 로고
    • Comparative anatomy of the human APRT gene and enzyme: Nucleotide sequence divergence and conservation of a nonran-dom CpG dinucleotide arrangement
    • Broderick TP, Schaff DA, Bertino AM, Dush MK, Tischfield JA, Stam-brook PJ: Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonran-dom CpG dinucleotide arrangement. Proc Natl Acad Sci USA 84: 3349-3353, 1987
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 3349-3353
    • Broderick, T.P.1    Schaff, D.A.2    Bertino, A.M.3    Dush, M.K.4    Tischfield, J.A.5    Stam-Brook, P.J.6
  • 13
    • 0026330962 scopus 로고
    • Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient
    • Chen J, Sahota A, Laxdal T, Scrine M, Bowman S, Cui C, Stambrook PJ, Tischfield JA: Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. Am J Hum Genet 49: 1306-1311, 1991
    • (1991) Am J Hum Genet , vol.49 , pp. 1306-1311
    • Chen, J.1    Sahota, A.2    Laxdal, T.3    Scrine, M.4    Bowman, S.5    Cui, C.6    Stambrook, P.J.7    Tischfield, J.A.8
  • 14
    • 0035718117 scopus 로고    scopus 로고
    • 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT
    • Deng L, Yang M, Frund S, Wessel T, De Abreu RA, Tischfield JA, Sahota A: 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. Mol Genet Metab 72: 260-264, 2001
    • (2001) Mol Genet Metab , vol.72 , pp. 260-264
    • Deng, L.1    Yang, M.2    Frund, S.3    Wessel, T.4    De Abreu, R.A.5    Tischfield, J.A.6    Sahota, A.7
  • 15
    • 0023577538 scopus 로고
    • Human ade-nine phosphoribosyltransferase: Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme
    • Hidaka Y, Palella TD, O'Toole TE, Tarle SA, Kelley WN: Human ade-nine phosphoribosyltransferase: Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. J Clin Invest 80: 1409-1415, 1987
    • (1987) J Clin Invest , vol.80 , pp. 1409-1415
    • Hidaka, Y.1    Palella, T.D.2    O'Toole, T.E.3    Tarle, S.A.4    Kelley, W.N.5
  • 16
    • 0023856891 scopus 로고
    • Human adenine phosphoribosyltransferase deficiency: Demonstration of a single mutant allele common to the Japanese
    • Hidaka Y, Tarle SA, Fujimori S, Kamatani N, Kelley WN, Palella TD: Human adenine phosphoribosyltransferase deficiency: Demonstration of a single mutant allele common to the Japanese. J Clin Invest 81: 945-950, 1988
    • (1988) J Clin Invest , vol.81 , pp. 945-950
    • Hidaka, Y.1    Tarle, S.A.2    Fujimori, S.3    Kamatani, N.4    Kelley, W.N.5    Palella, T.D.6
  • 17
    • 0026637076 scopus 로고
    • Only three mutations account for almost all defective alleles causing ade-nine phosphoribosyltransferase deficiency in Japanese patients
    • Kamatani N, Hakoda M, Otsuka S, Yoshikawa H, Kashiwazaki S: Only three mutations account for almost all defective alleles causing ade-nine phosphoribosyltransferase deficiency in Japanese patients. J Clin Invest 90: 130-135, 1992
    • (1992) J Clin Invest , vol.90 , pp. 130-135
    • Kamatani, N.1    Hakoda, M.2    Otsuka, S.3    Yoshikawa, H.4    Kashiwazaki, S.5
  • 20
    • 0027655673 scopus 로고
    • Urinary calculi: Review of classification methods and correlations with etiology
    • discussion 1104-1106
    • Daudon M, Bader CA, Jungers P. Urinary calculi: Review of classification methods and correlations with etiology. Scanning Microsc 7: 1081-1104, discussion 1104-1106, 1993
    • (1993) Scanning Microsc , vol.7 , pp. 1081-1104
    • Daudon, M.1    Bader, C.A.2    Jungers, P.3
  • 21
    • 7544222935 scopus 로고    scopus 로고
    • Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi
    • Daudon M, Jungers P: Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi. Nephron Physiol 98: 31-36, 2004
    • (2004) Nephron Physiol , vol.98 , pp. 31-36
    • Daudon, M.1    Jungers, P.2
  • 22
    • 1642386029 scopus 로고    scopus 로고
    • Four consecutive renal transplantations in a patient with adenine phospho-ribosyltransferase deficiency
    • Eller P, Rosenkranz AR, Mark W, Theurl I, Laufer J, Lhotta K: Four consecutive renal transplantations in a patient with adenine phospho-ribosyltransferase deficiency. Clin Nephrol 61: 217-221, 2004
    • (2004) Clin Nephrol , vol.61 , pp. 217-221
    • Eller, P.1    Rosenkranz, A.R.2    Mark, W.3    Theurl, I.4    Laufer, J.5    Lhotta, K.6
  • 23
    • 7444257374 scopus 로고    scopus 로고
    • ESRD caused by nephrolithiasis: Prevalence, mechanisms, and prevention
    • Jungers P, Joly D, Barbey F, Choukroun G, Daudon M: ESRD caused by nephrolithiasis: Prevalence, mechanisms, and prevention. Am J Kidney Dis 44: 799-805, 2004
    • (2004) Am J Kidney Dis , vol.44 , pp. 799-805
    • Jungers, P.1    Joly, D.2    Barbey, F.3    Choukroun, G.4    Daudon, M.5
  • 25
    • 0027153307 scopus 로고
    • Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots at the intron 4 splice donor site and at codon 87
    • Chen J, Sahota A, Martin GF, Hakoda M, Kamatani N, Stambrook PJ, Tischfield JA: Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots at the intron 4 splice donor site and at codon 87. Mutat Res 287: 217-225, 1993
    • (1993) Mutat Res , vol.287 , pp. 217-225
    • Chen, J.1    Sahota, A.2    Martin, G.F.3    Hakoda, M.4    Kamatani, N.5    Stambrook, P.J.6    Tischfield, J.A.7
  • 26
    • 0028331526 scopus 로고
    • Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis
    • Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA: Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Hum Mol Genet 3: 817-818, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 817-818
    • Sahota, A.1    Chen, J.2    Boyadjiev, S.A.3    Gault, M.H.4    Tischfield, J.A.5
  • 27
    • 0025964923 scopus 로고
    • A mutant allele common to the type i adenine phosphoribosyl-transferase deficiency in Japanese subjects
    • Mimori A, Hidaka Y, Wu VC, Tarle SA, Kamatani N, Kelley WN, Pallela TD: A mutant allele common to the type I adenine phosphoribosyl-transferase deficiency in Japanese subjects. Am J Hum Genet 48: 103-107, 1991
    • (1991) Am J Hum Genet , vol.48 , pp. 103-107
    • Mimori, A.1    Hidaka, Y.2    Wu, V.C.3    Tarle, S.A.4    Kamatani, N.5    Kelley, W.N.6    Pallela, T.D.7
  • 29
    • 0026742417 scopus 로고
    • The restriction enzyme Mse i applied for the detection of a possibly common mutation of the APRT locus
    • Gathof BS, Zollner N: The restriction enzyme Mse I applied for the detection of a possibly common mutation of the APRT locus. Clin Investig 70: 535, 1992
    • (1992) Clin Investig , vol.70 , pp. 535
    • Gathof, B.S.1    Zollner, N.2
  • 30
    • 0030828915 scopus 로고    scopus 로고
    • Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair
    • Menardi C, Schneider R, Neuschmid-Kaspar F, Klocker H, Hirsch-Kauffmann M, Auer B, Schweiger M: Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair. Hum Mutat 10: 251-255, 1997
    • (1997) Hum Mutat , vol.10 , pp. 251-255
    • Menardi, C.1    Schneider, R.2    Neuschmid-Kaspar, F.3    Klocker, H.4    Hirsch-Kauffmann, M.5    Auer, B.6    Schweiger, M.7
  • 31
    • 0025045872 scopus 로고
    • Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation
    • Kamatani N, Kuroshima S, Hakoda M, Palella TD, Hidaka Y: Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation. Hum Genet 85: 600-604, 1990
    • (1990) Hum Genet , vol.85 , pp. 600-604
    • Kamatani, N.1    Kuroshima, S.2    Hakoda, M.3    Palella, T.D.4    Hidaka, Y.5
  • 32
    • 0025092793 scopus 로고
    • Identification of a compound heterozygote for adenine phos-phoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis
    • Kamatani N, Kuroshima S, Yamanaka H, Nakashe S, Take H, Hakoda M: Identification of a compound heterozygote for adenine phos-phoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. Hum Genet 85: 500-504, 1990
    • (1990) Hum Genet , vol.85 , pp. 500-504
    • Kamatani, N.1    Kuroshima, S.2    Yamanaka, H.3    Nakashe, S.4    Take, H.5    Hakoda, M.6
  • 33
    • 0018143814 scopus 로고
    • Adenine and adenosine metabolism in intact erythrocytes deficient in adeno-sine monophosphate-pyrophosphate phosphoribosyltransferase: A study of two families
    • Dean BM, Perrett D, Simmonds HA, Sahota A, Van Acker KJ: Adenine and adenosine metabolism in intact erythrocytes deficient in adeno-sine monophosphate-pyrophosphate phosphoribosyltransferase: A study of two families. Clin Sci Mol Med 55: 407-412, 1978
    • (1978) Clin Sci Mol Med , vol.55 , pp. 407-412
    • Dean, B.M.1    Perrett, D.2    Simmonds, H.A.3    Sahota, A.4    Van Acker, K.J.5
  • 34
    • 0017397075 scopus 로고
    • Adenine phosphoribosyl-transferase: A simple spectrophotometric assay and the incidence of mutation in the normal population
    • Johnson LA, Gordon RB, Emmerson BT: Adenine phosphoribosyl-transferase: A simple spectrophotometric assay and the incidence of mutation in the normal population. Biochem Genet 15: 265-572, 1977
    • (1977) Biochem Genet , vol.15 , pp. 265-572
    • Johnson, L.A.1    Gordon, R.B.2    Emmerson, B.T.3
  • 35
    • 0015333180 scopus 로고
    • Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media
    • Srivastava SK, Villacorte D, Beutler E: Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media. Transfusion 12: 190-197, 1972
    • (1972) Transfusion , vol.12 , pp. 190-197
    • Srivastava, S.K.1    Villacorte, D.2    Beutler, E.3
  • 36
  • 37
    • 34147205677 scopus 로고    scopus 로고
    • Expressing the Modification of Diet in Renal Disease Study equation for estimating glomerular filtration rate with standardized serum creatinine values
    • Levey AS, Coresh J, Greene T, Marsh J, Stevens LA, Kusek JW, Van Lente F: Expressing the Modification of Diet in Renal Disease Study equation for estimating glomerular filtration rate with standardized serum creatinine values. Clin Chem 53: 766-772, 2007
    • (2007) Clin Chem , vol.53 , pp. 766-772
    • Levey, A.S.1    Coresh, J.2    Greene, T.3    Marsh, J.4    Stevens, L.A.5    Kusek, J.W.6    Van Lente, F.7
  • 39
    • 0028260861 scopus 로고
    • Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: The first report of recurrence in a kidney transplant
    • Gagne ER, Deland E, Daudon M, Noel LH, Nawar T: Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: The first report of recurrence in a kidney transplant. Am J Kidney Dis 24: 104-107, 1994
    • (1994) Am J Kidney Dis , vol.24 , pp. 104-107
    • Gagne, E.R.1    Deland, E.2    Daudon, M.3    Noel, L.H.4    Nawar, T.5
  • 40
    • 0029939972 scopus 로고    scopus 로고
    • Fourier transform infrared microscopy identification of crystal deposits in tissues: Clinical importance in various pathologies
    • Estepa-Maurice L, Hennequin C, Marfisi C, Bader C, Lacour B, Daudon M: Fourier transform infrared microscopy identification of crystal deposits in tissues: Clinical importance in various pathologies. Am J Clin Pathol 105: 576-582, 1996
    • (1996) Am J Clin Pathol , vol.105 , pp. 576-582
    • Estepa-Maurice, L.1    Hennequin, C.2    Marfisi, C.3    Bader, C.4    Lacour, B.5    Daudon, M.6
  • 41
    • 67249161053 scopus 로고    scopus 로고
    • Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: Implications for Lesch-Nyhan disease pathogenesis
    • Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA: Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: Implications for Lesch-Nyhan disease pathogenesis. Hum Mol Genet 18: 2317-2327, 2009
    • (2009) Hum Mol Genet , vol.18 , pp. 2317-2327
    • Ceballos-Picot, I.1    Mockel, L.2    Potier, M.C.3    Dauphinot, L.4    Shirley, T.L.5    Torero-Ibad, R.6    Fuchs, J.7    Jinnah, H.A.8
  • 42
    • 67650090909 scopus 로고    scopus 로고
    • Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltrans-ferase
    • Ea HK, Bardin T, Jinnah HA, Aral B, Liote F, Ceballos-Picot I: Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltrans-ferase. Arthritis Rheum 60: 2201-2204, 2009
    • (2009) Arthritis Rheum , vol.60 , pp. 2201-2204
    • Ea, H.K.1    Bardin, T.2    Jinnah, H.A.3    Aral, B.4    Liote, F.5    Ceballos-Picot, I.6
  • 43
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • Den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15: 7-12, 2000
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.