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30 results for Lesch-Nyhan+Syndrome+-+enzymology

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Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase
Author / Creator:Mastrangelo, Lina ; Kim, Ji-Eun ; Miyanohara, Atsushi ; Kang, Tae Hyuk ; Friedmann, Theodore
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-02, Vol.109 (9), p.3377-3382
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HPRT-Deficiency Dysregulates cAMP-PKA Signaling and Phosphodiesterase 10A Expression: Mechanistic Insight and Potential Target for Lesch-Nyhan Disease?
Author / Creator:Guibinga, Ghiabe-Henri ; Murray, Fiona ; Barron, Nikki
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-05, Vol.8 (5), p.e63333-e63333
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Stable correction of a genetic deficiency in human cells by an episome carrying a 115 kb genomic transgene
Author / Creator:Wade-Martins, Richard ; White, Robert E. ; Kimura, Hiroshi ; Cook, Peter R. ; James, Michael R.
Publisher:New York: Nature Publishing Group US
Journal title:Nature biotechnology, 2000-12, Vol.18 (12), p.1311-1314
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Late diagnosis of Lesch-Nyhan disease variant
Author / Creator:Doucet, Brian Percy ; Jegatheesan, Dev ; Burke, John
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2013-12, Vol.2013, p.bcr2013201997
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NAD metabolism in HPRT-deficient mice
Author / Creator:Micheli, Vanna ; Jacomelli, Gabriella ; Di Marcello, Federica ; Notarantonio, Laura ; Sestini, Silvia ; Cerboni, Barbara ; Bertelli, Matteo ; Pompucci, Giuseppe ; Jinnah, Hyder A
Publisher:Boston: Boston : Springer US
Journal title:Metabolic brain disease, 2009-06, Vol.24 (2), p.311-319
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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families
Author / Creator:Torres, R.J. ; Mateos, F.A. ; Molano, J. ; Gathoff, B.S. ; O'Neill, J.P. ; Gundel, R.M. ; Trombley, L. ; Puig, J.G.
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2000-04, Vol.15 (4), p.383-383
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A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome
Author / Creator:Mizunuma, Makiko ; Fujimori, Shin ; Ogino, Hitoshi ; Ueno, Takamasa ; Inoue, Hirokazu ; Kamatani, Naoyuki
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2001-11, Vol.18 (5), p.435-443
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New Approaches to Understanding Lesch–Nyhan Disease
Author / Creator:Nyhan, William L ; Wong, Dean F
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1996-06, Vol.334 (24), p.1602-1604
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Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency
Author / Creator:Willers, I. ; Bolz, H. ; Wehnert, M. ; Gal, A.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 1999-10, Vol.22 (7), p.845-846
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The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations
Author / Creator:Liu, Guang ; Aral, Bernard ; Zabot, Marie-Thérèse ; Kamoun, Pierre ; Ceballos-Picot, Irène
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 1998, Vol.11 (S1), p.S88-S90
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The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations
Author / Creator:Liu, G ; Aral, B ; Zabot, M T ; Kamoun, P ; Ceballos-Picot, I
Publisher:United States
Journal title:Human mutation, 1998, Vol.Suppl 1, p.S88-S90
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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: The Molecular Basis of the Clinical Syndromes
Author / Creator:Wilson, James M ; Young, Anne B ; Kelley, William N
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1983-10, Vol.309 (15), p.900-910
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A Three-Allele Restriction-Fragment-Length Polymorphism at the Hypoxanthine Phosphoribosyltransferase Locus in Man
Author / Creator:Nussbaum, Robert L. ; Crowder, William E. ; Nyhan, William L. ; Caskey, C. Thomas
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1983-07, Vol.80 (13), p.4035-4039
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Glial Cells Metabolically Cooperate: A Potential Requirement for Gene Replacement Therapy
Author / Creator:Gruber, H. E. ; Koenker, R. ; Luchtman, L. A. ; Willis, R. C. ; Seegmiller, J. E.
Publisher:Washington, DC: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1985-10, Vol.82 (19), p.6662-6666
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Monoamine Oxidase Activity Decreased in Cells Lacking Hypoxanthine Phosphoribosyltransferase Activity
Author / Creator:Breakefield, Xandra O. ; Castiglione, Carmela M. ; Edelstein, Susan B.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 1976-06, Vol.192 (4243), p.1018-1020
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Lesch-Nyhan Syndrome: Low Dopamine-β-Hydroxylase Activity and Diminished Sympathetic Response to Stress and Posture
Author / Creator:Lake, C. Raymond ; Ziegler, Michael G.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 1977-05, Vol.196 (4292), p.905-906
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Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles
Author / Creator:Gartler, Stanley M. ; Scott, Ronald C. ; Goldstein, Joseph L. ; Campbell, Barbara ; Sparkes, Robert
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 1971-05, Vol.172 (3983), p.572-574
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Phosphoribosylpyrophosphate Overproduction, a New Metabolic Abnormality in the Lesch Nyhan Syndrome
Author / Creator:Reem, Gabrielle H.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 1975-12, Vol.190 (4219), p.1098-1099
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Phosphoribosylpyrophosphate Synthetase Is Elevated in Fibroblasts from Patients with the Lesch-Nyhan Syndrome
Author / Creator:Martin, David W. ; Maler, Bonnie A.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 1976-07, Vol.193 (4251), p.408-411
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Hypoxanthine Phosphoribosyltransferase Deficiency: Association of Reduced Catalytic Activity with Reduced Levels of Immunologically Detectable Enzyme Protein
Author / Creator:Upchurch, Katherine S. ; Leyva, Albert ; Arnold, William J. ; Holmes, Edward W. ; Kelley, William N.
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1975-10, Vol.72 (10), p.4142-4146
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Showing 1 to 20 of 30 results

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Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase

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HPRT-Deficiency Dysregulates cAMP-PKA Signaling and Phosphodiesterase 10A Expression: Mechanistic Insight and Potential Target for Lesch-Nyhan Disease?

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Stable correction of a genetic deficiency in human cells by an episome carrying a 115 kb genomic transgene

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Late diagnosis of Lesch-Nyhan disease variant

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NAD metabolism in HPRT-deficient mice

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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families

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A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome

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New Approaches to Understanding Lesch–Nyhan Disease

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Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency

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The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations

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The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations

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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: The Molecular Basis of the Clinical Syndromes

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A Three-Allele Restriction-Fragment-Length Polymorphism at the Hypoxanthine Phosphoribosyltransferase Locus in Man

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Glial Cells Metabolically Cooperate: A Potential Requirement for Gene Replacement Therapy

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Monoamine Oxidase Activity Decreased in Cells Lacking Hypoxanthine Phosphoribosyltransferase Activity

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Lesch-Nyhan Syndrome: Low Dopamine-β-Hydroxylase Activity and Diminished Sympathetic Response to Stress and Posture

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Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

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Phosphoribosylpyrophosphate Overproduction, a New Metabolic Abnormality in the Lesch Nyhan Syndrome

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Phosphoribosylpyrophosphate Synthetase Is Elevated in Fibroblasts from Patients with the Lesch-Nyhan Syndrome

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Hypoxanthine Phosphoribosyltransferase Deficiency: Association of Reduced Catalytic Activity with Reduced Levels of Immunologically Detectable Enzyme Protein

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