The human β-amyloid precursor protein: biomolecular and epigenetic aspects
Biomolecular Concepts, 2015 Beta-amyloid precursor protein (APP) is a membrane-spanning protein with a large extracellular domain and a much smaller intracellular domain. APP plays a central role in Alzheimer’s disease (AD) pathogenesis: APP processing generates β-amyloid (Aβ ...
Nguyen Khue Vu
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Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. [PDF]
, 1989 Shin Fujimori +3 more
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Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland) [PDF]
, 1988 Beverly L. Davidson +2 more
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Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects. [PDF]
, 1988 Beverly L. Davidson +4 more
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IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF GPCR23/LPA4 AS A CANDIDATE G PROTEIN-COUPLED RECEPTOR FOR GUANOSINE [PDF]
, 2014 La guanosina esercita diverse funzioni a livello del Sistema Nervoso Centrale, coinvolgendo recettori di membrana accoppiati a proteine G (GPCR) non ancora identificati.
GRILLO, Maria
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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 +4 more
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Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene [PDF]
, 1992 Herdis Steingrimsdottir +4 more
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Synthesis of normal and variant human hypoxanthine-guanine phosphoribosyltransferase in Escherichia coli [PDF]
, 1993 Beverly L. Davidson +4 more
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Strand-specific mutation induction by 1,2-dibromomethane at the hypoxanthine-guanine phosphoribosyltransferase locus of Chinese hamster ovary cells [PDF]
, 1998 Leo Ballering +3 more
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PLoS ONEThis study evaluated 15 lactic acid bacteria with a focus on their ability to degrade inosine and hypo-xanthine-which are the intermediates in purine metabolism-for the management of hyperuricemia and gout.
Dayoung Kim +5 more
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