Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

The Lesch-Nyhan syndrome is characterized clinically by choreoathetosis, spasticity, selfmutilation, and mental and growth retardation. Biochemically, there is a striking reduction of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in affected individuals. We have examined erythrocyt...

Uloženo v:

Podrobná bibliografie
Hlavní autoři:	William J. Arnold, Jean C. Meade, William N. Kelley
Médium:	Artigo
Jazyk:	angličtina
Vydáno:	1972
On-line přístup:	https://doi.org/10.1172/jci106982 http://www.jci.org/articles/view/106982/files/pdf
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Podobné jednotky

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome
Autor: Arnold, William J., a další
Vydáno: (1972)

Studies on Hypoxanthine-Guanine Phosphoribosyltransferase in Fibroblasts from Patients with the Lesch-Nyhan Syndrome
Autor: William N. Kelley, a další
Vydáno: (1971)

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
Autor: Wilson, J M, a další
Vydáno: (1983)

Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.
Autor: Ghangas, G S, a další
Vydáno: (1975)

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
Autor: Fujimori, S, a další
Vydáno: (1989)

Dietary-Induced Variation of Hypoxanthine-Guanine Phosphoribosyl Transferase Activity in Patients with the Lesch-Nyhan Syndrome
Autor: Arnold, William J., a další
Vydáno: (1973)

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
Autor: Kim, K. J., a další
Vydáno: (1997)

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
Autor: Torres, Rosa J, a další
Vydáno: (2007)

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
Autor: Rosa J. Torres, a další
Vydáno: (2007)

THE PURINE REQUIREMENT OF CELLS CULTURED FROM HUMANS AFFECTED WITH THE LESCH-NYHAN SYNDROME (HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY)
Autor: Felix, Jeanette S., a další
Vydáno: (1969)

Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
Autor: Laróvere, Laura E., a další
Vydáno: (2021)

Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector.
Autor: Randall C. Willis, a další
Vydáno: (1984)

Human Hypoxanthine-Guanine Phosphoribosyltransferase
Autor: William J. Arnold, a další
Vydáno: (1971)

Expression of human and Chinese hamster hypoxanthine-guanine phosphoribosyltransferase cDNA recombinants in cultured Lesch-Nyhan and Chinese hamster fibroblasts.
Autor: John Brennand, a další
Vydáno: (1983)

Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer
Autor: Nguyen, Khue Vu
Vydáno: (2021)

Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome.
Autor: McKeran, R O, a další
Vydáno: (1976)

Human hypoxanthine-guanine phosphoribosyltransferase.
Autor: James M. Wilson, a další
Vydáno: (1983)

Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.
Autor: James M. Wilson, a další
Vydáno: (1982)

Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
Autor: Schretlen, David J., a další
Vydáno: (2015)

Purification of IMP:Pyrophosphate Phosphoribosyltransferases, Catalytically Incompetent Enzymes in Lesch-Nyhan Disease
Autor: Rubin, Charles S., a další
Vydáno: (1971)

Purification of IMP:Pyrophosphate Phosphoribosyltransferases, Catalytically Incompetent Enzymes in Lesch-Nyhan Disease
Autor: Charles S. Rubin, a další
Vydáno: (1971)

Human hypoxanthine-guanine phosphoribosyltransferase: studies of the normal and five mutant forms of the enzyme.
Autor: Kelley, W. N., a další
Vydáno: (1983)

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase
Autor: Jane Henderson, a další
Vydáno: (1968)

Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrameric structure.
Autor: J A Holden, a další
Vydáno: (1978)

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
Autor: Ceballos-Picot, Irene, a další
Vydáno: (2009)

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
Autor: Irène Ceballos-Picot, a další
Vydáno: (2009)

Diagnosis and Treatment of the Lesch-Nyhan Syndrome
Autor: J.C. Crawhall, a další
Vydáno: (1972)

The Spectrum of Hypoxanthine-guanine Phosphoribosyltransferase Deficiency
Autor: B. T. Emmerson, a další
Vydáno: (1973)

Chinese Hamster Hypoxanthine-Guanine Phosphoribosyltransferase
Autor: Anne S. Olsen, a další
Vydáno: (1974)

Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome
Autor: Pehlke, D. Michael, a další
Vydáno: (1972)

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
Autor: James M. Wilson, a další
Vydáno: (1986)

Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients.
Autor: Sidi, Y, a další
Vydáno: (1985)

Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients.
Autor: Yechezkel Sidi, a další
Vydáno: (1985)

The development of hypoxanthine-guanine phosphoribosyltransferase activity in man.
Autor: Adams, A, a další
Vydáno: (1971)

Characterization of guanine and hypoxanthine phosphoribosyltransferases in Methanococcus voltae.
Autor: Bowen, T L, a další
Vydáno: (1996)

The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency
Autor: Juan Puig, a další
Vydáno: (2001)

Purification and characterization of mouse hypoxanthine-guanine phosphoribosyltransferase.
Autor: Stephen H. Hughes, a další
Vydáno: (1975)

Lesch-Nyhan Syndrome in an Indian Child
Autor: Chandekar, Priyanka, a další
Vydáno: (2015)

Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.
Autor: Fox, I H, a další
Vydáno: (1975)

Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
Autor: Wilson, J M, a další
Vydáno: (1983)