Results 101 to 110 of about 34,291 (223)

A Golgi study of neuronal architecture in a genetic mouse model for Lesch–Nyhan disease

Neurobiology of Disease, 2005
Lesch–Nyhan disease (LND) is an inherited disorder associated with deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme essential for purine recycling.
Ivan Mikolaenko, Lekha M. Rao, Rosalinda C. Roberts, Bryan Kolb, H.A. Jinnah   +4 more
doaj   +1 more source

Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heter ozygotes

, 2008
Heterozygotes for the Lesch-Nyhan syndrome have normal hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in their erythrocyte lysates. However, HGPRT activity in lysates from heterozygotes for the partial HGPRT deficiency states is often ...
Emmerson, B. T., R. B. Gordon, L. A. Johnson, B. T. Emmerson, Johnson, L. A., Gordon, R. B.   +5 more
core   +1 more source

Targeted Nucleotide Substitution in Mammalian Cell by Target-AID

Bio-Protocol, 2017
Programmable RNA-guided nucleases based on CRISPR (clustered regularly interspaced short palindromic repeats)-Cas (CRISPR-associated protein) systems have been applied to various type of cells as powerful genome editing tools. By using activation-induced
Takayuki Arazoe, Keiji Nishida, Akihiko Kondo   +2 more
doaj   +1 more source

Human hypoxanthine-guanine phosphoribosyltransferase. Steady state kinetics of the forward and reverse reactions

, 1978
A steady state kinetic study of the hypoxanthine-guanine phosphoribosyltransferase-catalyzed reaction in the forward and the reverse directions was carried out.
GIACOMELLO, Alessandro, SALERNO, Costantino   +1 more
core  

Abnormal development of hypoxanthine-guanine phosphoribosyltransferase-deficient CNS neuroblastoma

, 2001
Lesch-Nyhan syndrome encompasses a host of neurological symptoms, caused by a deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Stacey, NC, Duley, JA, Connolly, GP
core   +1 more source

Data supporting the design and evaluation of a universal primer pair for pseudogene-free amplification of HPRT1 in real-time PCR

Data in Brief, 2015
Hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) is a common housekeeping gene for sample normalization in the quantitative reverse transcriptase polymerase chain (qRT-PCR).
Reza Valadan, Akbar Hedayatizadeh-Omran, Mahdyieh Naghavi Alhosseini-Abyazani, Omolbanin Amjadi, Alireza Rafiei, Mohsen Tehrani, Reza Alizadeh-Navaei   +6 more
doaj   +1 more source

Distinct mechanisms of hypoxanthine and inosine transport in membrane vesicles isolated from Chinese hamster ovary and Balb 3T3 cells

, 1981
Both enzyme-mediated group translocation and facilitated diffusion have been proposed as mechanisms by which mammalian cells take up purine bases and nucleosides.
Hochstadt, Joy, Shopsis, Charles, Prasad, Rajendra   +2 more
core   +1 more source

Perfecting a high hypoxanthine phosphoribosyltransferase activity-uricase KO mice to test the effects of purine- and non-purine-type xanthine dehydrogenase (XDH) inhibitors. [PDF]

Br J Pharmacol, 2020
Hosoya T, Uchida S, Shibata S, Tomioka NH, Hosoyamada M.   +4 more
europepmc   +1 more source

Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms

, 1987
A simple and rapid spectrophotometric assay for the estimation of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in human tissues is described. It is based on the increase in absorbance at 257.5 nm which occurs when the substrate guanine
McConachie, Lyndal A., Gordon, Ross B., Emmerson, Bryan T., Keough, Dianne T., de Jersey, John   +4 more
core   +1 more source

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series

Diagnostics
Background: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency.
Hung-Hsiang Fang, Chung-Lin Lee, Hui-Ju Chen, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin   +9 more
doaj   +1 more source