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Items: 1 to 20 of 65

1.
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
Hrafnhildur L. Runolfsdottir, John A. Sayer, Olafur S. Indridason, Vidar O. Edvardsson, Brynjar O. Jensson, Gudny A. Arnadottir, Sigurjon A. Gudjonsson, Run Fridriksdottir, Hildigunnur Katrinardottir, Daniel Gudbjartsson, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson, Runolfur Palsson
Eur J Hum Genet. 2021 Jul; 29(7): 1061–1070. Published online 2021 Mar 11. doi: 10.1038/s41431-020-00805-6
PMCID:
PMC8298615
AbstractArticlePDF–614K
2.
Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction
Mohammad Ozeir, Jessica Huyet, Marie-Claude Burgevin, Benoît Pinson, Françoise Chesney, Jean-Marc Remy, Abdul Rauf Siddiqi, Roland Lupoli, Grégory Pinon, Christelle Saint-Marc, Jean-François Gibert, Renaud Morales, Irène Ceballos-Picot, Robert Barouki, Bertrand Daignan-Fornier, Anne Olivier-Bandini, Franck Augé, Pierre Nioche
J Biol Chem. 2019 Aug 9; 294(32): 11980–11991. Published online 2019 Jun 3. doi: 10.1074/jbc.RA119.009087
PMCID:
PMC6690681
AbstractArticlePDF–2.4M
3.
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
Rea Valaperta, Vittoria Rizzo, Fortunata Lombardi, Chiara Verdelli, Marco Piccoli, Andrea Ghiroldi, Pasquale Creo, Alessio Colombo, Massimiliano Valisi, Elisabetta Margiotta, Rossella Panella, Elena Costa
BMC Nephrol. 2014; 15: 102. Published online 2014 Jul 1. doi: 10.1186/1471-2369-15-102
PMCID:
PMC4094445
AbstractArticlePDF–2.6M
4.
The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP
Kate J. Treharne, Oliver Giles Best, Anil Mehta
Mol Cell Biochem. 2009 Sep; 329(1-2): 107–114. Published online 2009 Apr 28. doi: 10.1007/s11010-009-0118-1
PMCID:
PMC2721138
AbstractArticlePDF–449K
5.
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
J Chen, A Sahota, T Laxdal, M Scrine, S Bowman, C Cui, P J Stambrook, J A Tischfield
Am J Hum Genet. 1991 Dec; 49(6): 1306–1311.
PMCID:
PMC1686459
SummaryPage BrowsePDF–1.0M
6.
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
N Kamatani, S Kuroshima, C Terai, Y Hidaka, T D Palella, K Nishioka
Am J Hum Genet. 1989 Aug; 45(2): 325–331.
PMCID:
PMC1683345
SummaryPage BrowsePDF–1.4M
7.
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
A Mimori, Y Hidaka, V C Wu, S A Tarlé, N Kamatani, W N Kelley, T D Pallela
Am J Hum Genet. 1991 Jan; 48(1): 103–107.
PMCID:
PMC1682758
SummaryPage BrowsePDF–974K
8.
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
N Kamatani, M Hakoda, S Otsuka, H Yoshikawa, S Kashiwazaki
J Clin Invest. 1992 Jul; 90(1): 130–135. doi: 10.1172/JCI115825
PMCID:
PMC443071
SummaryPage BrowsePDF–1.2M
9.
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
Y Hidaka, S A Tarlé, S Fujimori, N Kamatani, W N Kelley, T D Palella
J Clin Invest. 1988 Mar; 81(3): 945–950. doi: 10.1172/JCI113408
PMCID:
PMC442550
SummaryPage BrowsePDF–1.3M
10.
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
Y Hidaka, T D Palella, T E O'Toole, S A Tarlé, W N Kelley
J Clin Invest. 1987 Nov; 80(5): 1409–1415. doi: 10.1172/JCI113219
PMCID:
PMC442397
SummaryPage BrowsePDF–1.4M
11.
Nucleotide sequence of the human APRT gene.
Y Hidaka, S A Tarlé, T E O'Toole, W N Kelley, T D Palella
Nucleic Acids Res. 1987 Nov 11; 15(21): 9086. doi: 10.1093/nar/15.21.9086
PMCID:
PMC306432
SummaryPage BrowsePDF–138K
12.
Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.
T P Broderick, D A Schaff, A M Bertino, M K Dush, J A Tischfield, P J Stambrook
Proc Natl Acad Sci U S A. 1987 May; 84(10): 3349–3353. doi: 10.1073/pnas.84.10.3349
PMCID:
PMC304867
SummaryPage BrowsePDF–1.0M
13.
Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma
Maurus Locher, Emina Jukic, Verena Vogi, Markus A. Keller, Teresa Kröll, Simon Schwendinger, Klaus Oberhuber, Irmgard Verdorfer, Beatrix E. Mühlegger, Martina Witsch‐Baumgartner, David Nachbaur, Wolfgang Willenbacher, Eberhard Gunsilius, Dominik Wolf, Johannes Zschocke, Normann Steiner
Eur J Haematol. 2023 Mar; 110(3): 296–304. Published online 2022 Dec 4. doi: 10.1111/ejh.13905
PMCID:
PMC10107198
AbstractArticlePDF–1.1M
14.
A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates
Zuzana Saidak, Christophe Louandre, Samy Dahmani, Chloé Sauzay, Sara Guedda, Bruno Chauffert, Denis Chatelain, Irene Ceballos-Picot, Antoine Galmiche
Biosci Rep. 2018 Oct 31; 38(5): BSR20171716. Prepublished online 2018 Aug 13. Published online 2018 Sep 19. doi: 10.1042/BSR20171716
PMCID:
PMC6146287
AbstractArticlePDF–1.0M
15.
A thymine–adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus
Satoshi Hiramine, Masaya Sugiyama, Norihiro Furusyo, Hirofumi Uto, Akio Ido, Hirohito Tsubouchi, Hisayoshi Watanabe, Yoshiyuki Ueno, Masaaki Korenaga, Kazumoto Murata, Naohiko Masaki, Jun Hayashi, David L. Thomas, Masashi Mizokami
J Gastroenterol. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: J Gastroenterol. 2015 Oct; 50(10): 1069–1077. Published online 2015 Mar 5. doi: 10.1007/s00535-015-1056-1
Correction in:
J Gastroenterol. 2016 Mar; 51(3): 290.
PMCID:
PMC4651429
AbstractArticlePDF–252K
16.
Regulation of membrane fluidity by RNF145‐triggered degradation of the lipid hydrolase ADIPOR2
Norbert Volkmar, Christian M Gawden‐Bone, James C Williamson, Jonathon Nixon‐Abell, James A West, Peter H St George‐Hyslop, Arthur Kaser, Paul J Lehner
EMBO J. 2022 Oct; 41(19): e110777. Published online 2022 Aug 22. doi: 10.15252/embj.2022110777
PMCID:
PMC9531299
AbstractArticlePDF–6.9M
17.
Expanding the Substantial Interactome of NEMO Using Protein Microarrays
Beau J. Fenner, Michael Scannell, Jochen H. M. Prehn
PLoS One. 2010; 5(1): e8799. Published online 2010 Jan 20. doi: 10.1371/journal.pone.0008799
PMCID:
PMC2808332
AbstractArticlePDF–509K
18.
Identification of intracellular cavin target proteins reveals cavin-PP1alpha interactions regulate apoptosis
Kerrie-Ann McMahon, Yeping Wu, Yann Gambin, Emma Sierecki, Vikas A. Tillu, Thomas Hall, Nick Martel, Satomi Okano, Shayli Varasteh Moradi, Jayde E. Ruelcke, Charles Ferguson, Alpha S. Yap, Kirill Alexandrov, Michelle M. Hill, Robert G. Parton
Nat Commun. 2019; 10: 3279. Published online 2019 Jul 22. doi: 10.1038/s41467-019-11111-1
PMCID:
PMC6646387
AbstractArticlePDF–7.0M
19.
FOXA1 Directs H3K4 Monomethylation at Enhancers via Recruitment of the Methyltransferase MLL3
Kamila M. Jozwik, Igor Chernukhin, Aurelien A. Serandour, Sankari Nagarajan, Jason S. Carroll
Cell Rep. 2016 Dec 6; 17(10): 2715–2723. Published online 2016 Dec 6. doi: 10.1016/j.celrep.2016.11.028
PMCID:
PMC5177601
AbstractArticlePDF–2.9M
20.
Histone methyltransferase DOT1L coordinates AR and MYC stability in prostate cancer
R. Vatapalli, V. Sagar, Y. Rodriguez, J. C. Zhao, K. Unno, S. Pamarthy, B. Lysy, J. Anker, H. Han, Y. A. Yoo, M. Truica, Z. R. Chalmers, F. Giles, J. Yu, D. Chakravarti, B. Carneiro, S. A. Abdulkadir
Nat Commun. 2020; 11: 4153. Published online 2020 Aug 19. doi: 10.1038/s41467-020-18013-7
PMCID:
PMC7438336
AbstractArticlePDF–2.4M

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