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1. Full Text Crystal structures and inhibition of Trypanosoma brucei hypoxanthine-guanine phosphoribosyltransferase
by Terán, David and Terán, David and Hocková, Dana and Hocková, Dana and Česnek, Michal and Česnek, Michal and Zíková, Alena and Zíková, Alena and Naesens, Lieve and Naesens, Lieve and Keough, Dianne T and Keough, Dianne T and Guddat, Luke W and Guddat, Luke W
Scientific reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, pp. 35894 - 35894
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Hypoxanthine Phosphoribosyltransferase - antagonists & inhibitors | Species Specificity | Protozoan Proteins - antagonists & inhibitors | Humans | Crystallography, X-Ray | Protozoan Proteins - genetics | Trypanosoma brucei brucei - enzymology | Trypanosoma cruzi - enzymology | Hypoxanthine Phosphoribosyltransferase - chemistry | Protozoan Proteins - chemistry | Amino Acid Sequence | Catalytic Domain | Enzyme Inhibitors - pharmacology | Trypanosoma cruzi - genetics | Models, Molecular | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Trypanosoma brucei brucei - genetics | Trypanosoma brucei brucei - drug effects | Sequence Homology, Amino Acid | Animals | Hypoxanthine Phosphoribosyltransferase - genetics | Trypanocidal Agents - pharmacology | Protein Conformation | Kinetics | Protozoa | Enzymes | Transcription | Inosine monophosphate | Nucleotides | Drug resistance | Guanine | DNA biosynthesis | Side effects | Infectious diseases | Hypoxanthine | Phosphoribosyltransferase | African trypanosomiasis | Deoxyribonucleic acid--DNA | Crystal structure | Conformation | Index Medicus
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2. Full Text Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency
by Torres, R.J and Puente, S and Menendez, A and Fernandez-Garcia, N
Clinica chimica acta, ISSN 0009-8981, 09/2017, Volume 472, pp. 136 - 138
HPRT | Lesch Nyhan | PRPP | APRT | Lesch Nyhan variant | Life Sciences & Biomedicine | Medical Laboratory Technology | Science & Technology | Hemolysis | Hypoxanthine Phosphoribosyltransferase - genetics | Humans | Erythrocytes - metabolism | Male | Mutation, Missense | Child | Hypoxanthine Phosphoribosyltransferase - deficiency | Phosphates | Enzymes | Guanine | Medicine, Experimental | Medical research | Gene mutations | Index Medicus
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3. Full Text Deficiency of the Housekeeping Gene Hypoxanthine–Guanine Phosphoribosyltransferase (HPRT) Dysregulates Neurogenesis
by Guibinga, Ghiabe-Henri and Hsu, Stephen and Friedmann, Theodore
Molecular therapy, ISSN 1525-0016, 01/2010, Volume 18, Issue 1, pp. 54 - 62
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Neurogenesis - genetics | Cell Differentiation - genetics | Hypoxanthine Phosphoribosyltransferase - genetics | Humans | Hypoxanthine Phosphoribosyltransferase - metabolism | Cell Line, Tumor | Electrophysiology | Neurons - cytology | Neurites - metabolism | Neurons - metabolism | Hypoxanthine Phosphoribosyltransferase - deficiency | Index Medicus | Original
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4. Full Text Product Release Pathways in Human and Plasmodium falciparum Phosphoribosyltransferase
by Karmakar, Tarak and Roy, Sourav and Balaram, Hemalatha and Prakash, Meher K and Balasubramanian, Sundaram
Journal of chemical information and modeling, ISSN 1549-9596, 08/2016, Volume 56, Issue 8, pp. 1528 - 1538
Computer Science, Information Systems | Physical Sciences | Computer Science, Interdisciplinary Applications | Chemistry | Life Sciences & Biomedicine | Technology | Computer Science | Pharmacology & Pharmacy | Chemistry, Medicinal | Chemistry, Multidisciplinary | Science & Technology | Pentosyltransferases - genetics | Plasmodium falciparum - enzymology | Catalytic Domain | Movement | Humans | Hypoxanthine Phosphoribosyltransferase - metabolism | Inosine Monophosphate - metabolism | Pentosyltransferases - metabolism | Molecular Dynamics Simulation | Hypoxanthine Phosphoribosyltransferase - chemistry | Pentosyltransferases - chemistry | Hypoxanthine Phosphoribosyltransferase - genetics | Mutation | Molecules | Enzymes | Bacteria | Simulation | Binding sites | Index Medicus
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5. Full Text New mutation affecting hypoxanthine phosphoribosyltransferase responsible for severe tophaceous gout
by Lahaye, Clément and Auge, Franck and Soubrier, Martin and Ceballos-Picot, Irène
Journal of rheumatology, ISSN 0315-162X, 2014, Volume 41, Issue 6, pp. 1252 - 1254
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Young Adult | Male | Gout - genetics | Mutation | Hypoxanthine Phosphoribosyltransferase - genetics | Humans
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6. Full Text Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP)
by Nguyen, Khue Vu and Naviaux, Robert K and Nyhan, William L
Nucleosides, nucleotides & nucleic acids, ISSN 1525-7770, 06/2020, Volume 39, Issue 6, pp. 905 - 922
APP gene | mutation | HGprt enzyme | epistasis | antisense drugs | HPRT1 gene | expression vectors | HEK 293 cells | epigenetics | Lesch-Nyhan disease | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Lesch-Nyhan Syndrome - metabolism | Epigenomics | Purines - metabolism | Humans | Hypoxanthine Phosphoribosyltransferase - metabolism | Gene Expression Regulation | Lesch-Nyhan Syndrome - genetics | Reduced Folate Carrier Protein - genetics | Reduced Folate Carrier Protein - metabolism | Amyloid beta-Protein Precursor - genetics | Transfection | Hypoxanthine Phosphoribosyltransferase - genetics | Amyloid beta-Protein Precursor - metabolism | HEK293 Cells | Mutation | Enzymes | Self-injury | Disease | Neurodegenerative diseases | Hypoxanthine phosphoribosyltransferase | Epistasis | Neurodevelopmental disorders | Drug development | Guanine | Amyloid precursor protein | Lesch-Nyhan syndrome | Enzymatic activity | Etiology | Hypoxanthine | Phosphoribosyltransferase | Antisense DNA | Alzheimer's disease | Expression vectors | Structure-function relationships | Index Medicus
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7. Full Text Hyperuricemia and gout due to deficiency of hypoxanthine–guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis
by Kostalova, Eva and Pavelka, Karel and Vlaskova, Hana and Stiburkova, Blanka
Clinica chimica acta, ISSN 0009-8981, 02/2015, Volume 440, pp. 214 - 217
Hyperuricemia | Hypoxanthine–guanine phosphoribosyltransferase deficiency | Lesch–Nyhan syndrome | Gout | Purine metabolism | Lesch-Nyhan syndrome | Hypoxanthine-guanine phosphoribosyltransferase deficiency | Life Sciences & Biomedicine | Medical Laboratory Technology | Science & Technology | Diagnosis, Differential | Humans | Hyperuricemia - diagnosis | Male | Hyperuricemia - etiology | Gout - etiology | Xanthine - urine | Hypoxanthine Phosphoribosyltransferase - deficiency | Hypoxanthine Phosphoribosyltransferase - genetics | Pedigree | Adult | Female | Heterozygote | Gout - genetics | Mutation | Hypoxanthine - urine | Child | Infant, Newborn | Guanine | Diagnosis | Index Medicus
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8. Full Text Crystal structures of Apo and GMP bound hypoxanthine–guanine phosphoribosyltransferase from Legionella pneumophila and the implications in gouty arthritis
by Zhang, Nannan and Gong, Xiaojian and Lu, Min and Chen, Xiaofang and Qin, Ximing and Ge, Honghua
Journal of structural biology, ISSN 1047-8477, 06/2016, Volume 194, Issue 3, pp. 311 - 316
Hypoxanthine–guanine phosphoribosyltransferase | GMP binding site | Legionella pneumophila | Crystal structure | Hypoxanthine-guanine phosphoribosyltransferase | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Guanosine Monophosphate - chemistry | Biocatalysis | Humans | Hypoxanthine Phosphoribosyltransferase - metabolism | Crystallography, X-Ray | Arthritis, Gouty - genetics | Arthritis, Gouty - enzymology | Hypoxanthine Phosphoribosyltransferase - chemistry | Guanosine Monophosphate - metabolism | Protein Binding | Protein Conformation | Legionella pneumophila - enzymology | Binding Sites | Enzymes | Crystals | Arthritis | Catalysis | Structure | Guanine | Index Medicus
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9. Full Text Phenotypic variation among seven members of one family with deficiency of hypoxanthine–guanine phosphoribosyltransferase
by Ceballos-Picot, Irène and Augé, Franck and Fu, Rong and Olivier-Bandini, Anne and Cahu, Julie and Chabrol, Brigitte and Aral, Bernard and de Martinville, Bérengère and Lecain, Jean-Paul and Jinnah, H.A
Molecular genetics and metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 268 - 274
Variants | HGprt | Phenotype–genotype | Lesch–Nyhan disease | Molecular modeling | PRPP | Phenotype-genotype | Lesch-Nyhan disease | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Lesch-Nyhan Syndrome - metabolism | Humans | Middle Aged | Lesch-Nyhan Syndrome - genetics | Models, Molecular | Male | Hypoxanthine Phosphoribosyltransferase - chemistry | Hypoxanthine Phosphoribosyltransferase - deficiency | Young Adult | Phenotype | Codon | Hypoxanthine Phosphoribosyltransferase - genetics | Pedigree | Adolescent | Protein Binding | Adult | Lesch-Nyhan Syndrome - diagnosis | Protein Conformation | Enzyme Activation | Kinetics | Mutation | Protein Stability | Child | Amino Acid Substitution | Purines | Enzymes | Index Medicus | phenotype-genotype | variants | molecular modeling
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10. Lesch-Nyhan syndrome in a Chinese family with mutation in the hypoxanthine-guanine phosphoribosyltransferase gene
by Huang, Jiao and Zhang, Chu and Guo, Qinxian and Zhang, Xianfeng and Ma, Lizhen and Zhan, Yuhong and Chen, Yu
Clinical laboratory (Heidelberg), ISSN 1433-6510, 2018, Volume 64, Issue 1-2, pp. 197 - 200
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) | Hyperuricemia | Mutation | Lesch-Nyhan syndrome (LNS) | Life Sciences & Biomedicine | Medical Laboratory Technology | Science & Technology | Humans | Asian Continental Ancestry Group - genetics | Lesch-Nyhan Syndrome - genetics | Exons - genetics | Family Health | Male | Arthritis, Gouty - genetics | Arthritis, Gouty - enzymology | Hypoxanthine Phosphoribosyltransferase - genetics | Base Sequence | China | Adolescent | Lesch-Nyhan Syndrome - ethnology | Lesch-Nyhan Syndrome - diagnosis
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11. Full Text Generation of hypoxanthine phosphoribosyltransferase gene knockout rabbits by homologous recombination and gene trapping through somatic cell nuclear transfer
by Yin, Mingru and Jiang, Weihua and Fang, Zhenfu and Kong, Pengcheng and Xing, Fengying and Li, Yao and Chen, Xuejin and Li, Shangang
Scientific reports, ISSN 2045-2322, 11/2015, Volume 5, Issue 1, pp. 16023 - 16023
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Rabbits | Animals | Hypoxanthine Phosphoribosyltransferase - genetics | Animals, Genetically Modified - genetics | Homologous Recombination - genetics | Female | Male | Nuclear Transfer Techniques | Gene Knockout Techniques - methods | Gene targeting | Somatic cell nuclear transfer | Homologous recombination | Cloning | Cell lines | Nuclear transfer | Hypoxanthine | Hypoxanthine phosphoribosyltransferase | Phosphoribosyltransferase | Genetic engineering | Index Medicus
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12. Full Text CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions
by Gasperini, Molly and Findlay, Gregory M and McKenna, Aaron and Milbank, Jennifer H and Lee, Choli and Zhang, Melissa D and Cusanovich, Darren A and Shendure, Jay
American journal of human genetics, ISSN 0002-9297, 08/2017, Volume 101, Issue 2, pp. 192 - 205
ScanDel | genome editing | Mendelian | non-coding | deletion | gene regulation | tiling | CRISPR screen | paired guide RNA | Lesch-Nyhan | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cell Line | Hypoxanthine Phosphoribosyltransferase - genetics | RNA, Guide - genetics | Gene Expression Regulation - genetics | Humans | HEK293 Cells | Thioguanine - metabolism | Lesch-Nyhan Syndrome - genetics | Hypoxanthine Phosphoribosyltransferase - biosynthesis | CRISPR-Cas Systems - genetics | Regulatory Sequences, Nucleic Acid - genetics | Sequence Deletion - genetics | Physiological aspects | Research | Gene mutations | Genetic regulation | Index Medicus
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