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...

Whakaahuatanga katoa

I tiakina i:

Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua:	William J. Arnold, Jean C. Meade, William N. Kelley
Hōputu:	Artigo
Reo:	Ingarihi
I whakaputaina:	1972
Urunga tuihono:	https://doi.org/10.1172/jci106982 http://www.jci.org/articles/view/106982/files/pdf
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!

Ngā tūemi rite

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome
mā: Arnold, William J., me ētahi atu.
I whakaputaina: (1972)

Studies on Hypoxanthine-Guanine Phosphoribosyltransferase in Fibroblasts from Patients with the Lesch-Nyhan Syndrome
mā: William N. Kelley, me ētahi atu.
I whakaputaina: (1971)

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
mā: Wilson, J M, me ētahi atu.
I whakaputaina: (1983)

Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.
mā: Ghangas, G S, me ētahi atu.
I whakaputaina: (1975)

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
mā: Fujimori, S, me ētahi atu.
I whakaputaina: (1989)

Dietary-Induced Variation of Hypoxanthine-Guanine Phosphoribosyl Transferase Activity in Patients with the Lesch-Nyhan Syndrome
mā: Arnold, William J., me ētahi atu.
I whakaputaina: (1973)

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
mā: Kim, K. J., me ētahi atu.
I whakaputaina: (1997)

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
mā: Torres, Rosa J, me ētahi atu.
I whakaputaina: (2007)

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
mā: Rosa J. Torres, me ētahi atu.
I whakaputaina: (2007)

THE PURINE REQUIREMENT OF CELLS CULTURED FROM HUMANS AFFECTED WITH THE LESCH-NYHAN SYNDROME (HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY)
mā: Felix, Jeanette S., me ētahi atu.
I whakaputaina: (1969)

Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
mā: Laróvere, Laura E., me ētahi atu.
I whakaputaina: (2021)

Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector.
mā: Randall C. Willis, me ētahi atu.
I whakaputaina: (1984)

Human Hypoxanthine-Guanine Phosphoribosyltransferase
mā: William J. Arnold, me ētahi atu.
I whakaputaina: (1971)

Expression of human and Chinese hamster hypoxanthine-guanine phosphoribosyltransferase cDNA recombinants in cultured Lesch-Nyhan and Chinese hamster fibroblasts.
mā: John Brennand, me ētahi atu.
I whakaputaina: (1983)

Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer
mā: Nguyen, Khue Vu
I whakaputaina: (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.
mā: McKeran, R O, me ētahi atu.
I whakaputaina: (1976)

Human hypoxanthine-guanine phosphoribosyltransferase.
mā: James M. Wilson, me ētahi atu.
I whakaputaina: (1983)

Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.
mā: James M. Wilson, me ētahi atu.
I whakaputaina: (1982)

Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
mā: Schretlen, David J., me ētahi atu.
I whakaputaina: (2015)

Purification of IMP:Pyrophosphate Phosphoribosyltransferases, Catalytically Incompetent Enzymes in Lesch-Nyhan Disease
mā: Rubin, Charles S., me ētahi atu.
I whakaputaina: (1971)

Purification of IMP:Pyrophosphate Phosphoribosyltransferases, Catalytically Incompetent Enzymes in Lesch-Nyhan Disease
mā: Charles S. Rubin, me ētahi atu.
I whakaputaina: (1971)

Human hypoxanthine-guanine phosphoribosyltransferase: studies of the normal and five mutant forms of the enzyme.
mā: Kelley, W. N., me ētahi atu.
I whakaputaina: (1983)

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase
mā: Jane Henderson, me ētahi atu.
I whakaputaina: (1968)

Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrameric structure.
mā: J A Holden, me ētahi atu.
I whakaputaina: (1978)

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
mā: Ceballos-Picot, Irene, me ētahi atu.
I whakaputaina: (2009)

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
mā: Irène Ceballos-Picot, me ētahi atu.
I whakaputaina: (2009)

Diagnosis and Treatment of the Lesch-Nyhan Syndrome
mā: J.C. Crawhall, me ētahi atu.
I whakaputaina: (1972)

The Spectrum of Hypoxanthine-guanine Phosphoribosyltransferase Deficiency
mā: B. T. Emmerson, me ētahi atu.
I whakaputaina: (1973)

Chinese Hamster Hypoxanthine-Guanine Phosphoribosyltransferase
mā: Anne S. Olsen, me ētahi atu.
I whakaputaina: (1974)

Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome
mā: Pehlke, D. Michael, me ētahi atu.
I whakaputaina: (1972)

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
mā: James M. Wilson, me ētahi atu.
I whakaputaina: (1986)

Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients.
mā: Sidi, Y, me ētahi atu.
I whakaputaina: (1985)

Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients.
mā: Yechezkel Sidi, me ētahi atu.
I whakaputaina: (1985)

The development of hypoxanthine-guanine phosphoribosyltransferase activity in man.
mā: Adams, A, me ētahi atu.
I whakaputaina: (1971)

Characterization of guanine and hypoxanthine phosphoribosyltransferases in Methanococcus voltae.
mā: Bowen, T L, me ētahi atu.
I whakaputaina: (1996)

The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency
mā: Juan Puig, me ētahi atu.
I whakaputaina: (2001)

Purification and characterization of mouse hypoxanthine-guanine phosphoribosyltransferase.
mā: Stephen H. Hughes, me ētahi atu.
I whakaputaina: (1975)

Lesch-Nyhan Syndrome in an Indian Child
mā: Chandekar, Priyanka, me ētahi atu.
I whakaputaina: (2015)

Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.
mā: Fox, I H, me ētahi atu.
I whakaputaina: (1975)

Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
mā: Wilson, J M, me ētahi atu.
I whakaputaina: (1983)