Access the full text.
Sign up today, get DeepDyve free for 14 days.
S. Roffler-Tarlov, A. Graybiel (1987)
The postnatal development of the dopamine-containing innervation of dorsal and ventral striatum: effects of the weaver gene, 7
W. Kelley (1968)
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.Federation proceedings, 27 4
R. Gerlai (1996)
Gene-targeting studies of mammalian behavior: is it the mutation or the background genotype?Trends in Neurosciences, 19
H. Jinnah, B. Wójcik, M. Hunt, N. Narang, K.-Y. Lee, M. Goldstein, J. Wamsley, P. Langlais, T. Friedmann (1994)
Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease, 14
S. Dunnett, D. Sirinathsinghji, R. Heavens, D. Rogers, M. Kuehn (1989)
Monoamine deficiency in a transgenic (Hprt− ) mouse model of Lesch-Nyhan syndromeBrain Research, 501
K. Lunan, H. Mitchell (1969)
The metabolism of tyrosine-O-phosphate in Drosophila.Archives of biochemistry and biophysics, 132 2
D. Williamson, J. Sharkey, A. Clarke, A. Jamieson, G. Arbuthnott, P. Kelly, D. Melton, M. Hooper (1991)
Analysis of forebrain dopaminergic pathways in HPRT-mice.Advances in experimental medicine and biology, 309B
Rossiter (1995)
Hypoxanthine-guanine phosphoribosyltransferase deficiency : Lesch-Nyhan syndrome and gout, inThe Metabolic and Molecular Basis of Inherited Disease, 7
H. Jinnah, P. Langlais, T. Friedmann (1992)
Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome.The Journal of pharmacology and experimental therapeutics, 263 2
H. Jinnah, F. Gage, T. Friedmann (1990)
Animal models of Lesch-Nyhan syndromeBrain Research Bulletin, 25
M. Suda, Y. Takeda (1950)
METABOLISM OF TYROSINEJournal of Biochemistry, 37
Dean Wong, James Harris, S. Naidu, Sakkubai Naidu, Fuji Yokoi, Stefano Marenco, R. Dannals, H. Ravert, M. Yaster, Alan Evans, O. Rousset, Robert Bryan, Albert Gjedde, Michael Kuhar, G. Breese (1996)
Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo.Proceedings of the National Academy of Sciences of the United States of America, 93 11
Julia Skrinskaya, E. Nikulina, N. Popova (1992)
Role of genotype in brain dopamine metabolism and dopamine-dependent behavior of micePharmacology Biochemistry and Behavior, 42
H. Jinnah, T. Page, T. Friedmann (1993)
Brain Purines in a Genetic Mouse Model of Lesch‐Nyhan DiseaseJournal of Neurochemistry, 60
Manjit Sanghera, Francesco Crespi, K. Martin, David Heal, W. Buckett, Charles Marsden (1990)
Biochemical and in vivo voltammetric evidence for differences in striatal dopamine levels in inbred strains of miceNeuroscience, 39
James Harris, R. Lee, H. Jinnah, D. Wong, M. Yaster, R. Bryan (1998)
Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome.Archives of neurology, 55 4
K. Sege-Peterson, J. Chambers, T. Page, O. Jones, W. Nyhan (1992)
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.Human molecular genetics, 1 6
B. Davidson, S. Tarlé, M. Antwerp, D. Gibbs, R. Watts, W. Kelley, T. Palella (1991)
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.American journal of human genetics, 48 5
Stanley Finger, R. Heavens, D. Sirinathsinghji, M. Kuehn, S. Dunnett (1988)
Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndromeJournal of the Neurological Sciences, 86
M. Hooper, K. Hardy, A. Handyside, S. Hunter, M. Monk (1987)
HPRT-deficient (Lesch–Nyhan) mouse embryos derived from germline colonization by cultured cellsNature, 326
R. Albin (1997)
The Molecular and Genetic Basis of Neurological DiseaseJAMA, 278
S. Puglisi-Allegra, S. Cabib (1997)
PSYCHOPHARMACOLOGY OF DOPAMINE: THE CONTRIBUTION OF COMPARATIVE STUDIES IN INBRED STRAINS OF MICEProgress in Neurobiology, 51
K. Lloyd, O. Hornykiewicz, L. Davidson, K. Shannak, I. Farley, M. Goldstein, M. Shibuya, W. Kelley, I. Fox (1981)
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.The New England journal of medicine, 305 19
Monique Ernst, A. Zametkin, J. Matochik, D. Pascualvaca, P. Jons, Kristina Hardy, J. Hankerson, Doris Doudet, Robert Cohen (1996)
Presynaptic dopaminergic deficits in Lesch-Nyhan disease.The New England journal of medicine, 334 24
M. Kuehn, A. Bradley, E. Robertson, M. Evans (1987)
A potential animal model for Lesch–Nyhan syndrome through introduction of HPRT mutations into miceNature, 326
P. Voorn, A. Kalsbeek, B. Jorritsma-Byham, H. Groenewegen (1988)
The pre- and postnatal development of the dopaminergic cell groups in the ventral mesencephalon and the dopaminergic innervation of the striatum of the ratNeuroscience, 25
Abstract : Lesch‐Nyhan disease is a neurogenetic disorder caused by deficiency of the purine salvage enzyme hypoxanthine‐guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit a characteristic pattern of neurological and behavioral features attributable in part to dysfunction of basal ganglia dopamine systems. In the current studies, striatal dopamine loss was investigated in five different HPRT‐deficient strains of mice carrying one of two different HPRT gene mutations. Caudoputamen dopamine concentrations were significantly reduced in all five of the strains, with deficits ranging from 50.7 to 61.1%. Mesolimbic dopamine was significantly reduced in only three of the five strains, with a range of 31.6‐38.6%. The reduction of caudoputamen dopamine was age dependent, emerging between 4 and 12 weeks of age. Tyrosine hydroxylase and aromatic amino acid decarboxylase, two enzymes responsible for the synthesis of dopamine, were reduced by 22.4‐37.3 and 22.2‐43.1%, respectively. These results demonstrate that HPRT deficiency is strongly associated with a loss of basal ganglia dopamine. The magnitude of dopamine loss measurable is dependent on the genetic background of the mouse strain used, the basal ganglia sub‐region examined, and the age of the animals at assessment.
Journal of Neurochemistry – Wiley
Published: Jan 1, 1999
Keywords: ; ; ; ; ;
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.