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Items: 1 to 20 of 71

1.

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.

Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E.

BMC Nephrol. 2014 Jul 1;15:102. doi: 10.1186/1471-2369-15-102.

2.

Adenine Phosphoribosyltransferase Deficiency.

Edvardsson VO, Sahota A, Palsson R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2012 Aug 30 [updated 2019 Sep 26].

3.

A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.

Nozue H, Kamoda T, Saitoh H, Ichikawa K, Taniguchi A.

Acta Paediatr. 2011 Dec;100(12):e285-8. doi: 10.1111/j.1651-2227.2011.02371.x. Epub 2011 Jun 17.

PMID:
21635362
4.

The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP.

Treharne KJ, Best OG, Mehta A.

Mol Cell Biochem. 2009 Sep;329(1-2):107-14. doi: 10.1007/s11010-009-0118-1. Epub 2009 Apr 28.

5.

Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.

Silva CH, Silva M, Iulek J, Thiemann OH.

J Biomol Struct Dyn. 2008 Jun;25(6):589-97.

PMID:
18399692
6.

Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.

Di Pietro V, Perruzza I, Amorini AM, Balducci A, Ceccarelli L, Lazzarino G, Barsotti P, Giardina B, Tavazzi B.

Clin Biochem. 2007 Jan;40(1-2):73-80. Epub 2006 Oct 19.

PMID:
17126311
7.

APRT from erythrocytes of HGPRT deficient patients: kinetic, regulatory and thermostability properties.

Crespillo J, Llorente P, Argomániz L, Montero C.

Mol Cell Biochem. 2003 Dec;254(1-2):359-63.

PMID:
14674717
8.
9.

Induced activity of adenine phosphoribosyltransferase (APRT) in iron-deficiency barley roots: a possible role for phytosiderophore production.

Itai R, Suzuki K, Yamaguchi H, Nakanishi H, Nishizawa NK, Yoshimura E, Mori S.

J Exp Bot. 2000 Jul;51(348):1179-88.

PMID:
10937693
10.

Radiopaque 2,8-dihydroxyadenine lithiasis.

Yagisawa T, Yamazaki Y, Toma H, Kamatani N.

Int Urol Nephrol. 1999;31(2):141-3.

PMID:
10481956
11.

Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Wang L, Ou X, Sebesta I, Vondrak K, Krijt J, Elleder M, Poupetova H, Ledvinova J, Zeman J, Simmonds HA, Tischfield JA, Sahota A.

Mol Genet Metab. 1999 Sep;68(1):78-85.

PMID:
10479485
12.

DNA methylation represses transcription in vivo.

Siegfried Z, Eden S, Mendelsohn M, Feng X, Tsuberi BZ, Cedar H.

Nat Genet. 1999 Jun;22(2):203-6.

PMID:
10369268
13.

A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein.

Taniguchi A, Hakoda M, Yamanaka H, Terai C, Hikiji K, Kawaguchi R, Konishi N, Kashiwazaki S, Kamatani N.

Hum Genet. 1998 Feb;102(2):197-202.

PMID:
9521589
14.

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.

Hum Mutat. 1997;10(3):251-5. No abstract available.

PMID:
9298830
15.

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene.

Boyadjiev SA, Sahota A, Tischfield JA.

Hum Mutat. 1996;8(3):214-5. No abstract available.

PMID:
8889579
16.

The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.

Kamatani N, Terai C, Kim SY, Chen CL, Yamanaka H, Hakoda M, Totokawa S, Kashiwazaki S.

Hum Genet. 1996 Nov;98(5):596-600.

PMID:
8882882
18.

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.

Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA.

Hum Mol Genet. 1994 May;3(5):817-8. No abstract available.

PMID:
7915931
19.

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.

Mutat Res. 1993 Jun;287(2):217-25.

PMID:
7685481
20.

Germline and somatic mutation at the APRT locus of mice and man.

Tischfield JA, Engle SJ, Gupta PK, Bye S, Boyadjiev S, Shao C, O'Neill P, Albertini RJ, Stambrook PJ, Sahota AS.

Adv Exp Med Biol. 1994;370:661-4. Review. No abstract available.

PMID:
7660991

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