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Titolo: HPRT-APRT-DEFICIENT MICE ARE NOT A MODEL FOR LESCH-NYHAN SYNDROME
Autore: ENGLE SJ; WOMER DE; DAVIES PM; BOIVIN G; SAHOTA A; SIMMONDS HA; STAMBROOK PJ; TISCHFIELD JA;
- Indirizzi:
- INDIANA UNIV,SCH MED,DEPT MED & MOL GENET,1B 130,975 W WALNUT ST INDIANAPOLIS IN 46202 INDIANA UNIV,SCH MED,DEPT MED & MOL GENET INDIANAPOLIS IN 46202 GUYS HOSP,PURINE RES LAB LONDON SE1 9RT ENGLAND UNIV CINCINNATI,COLL MED,DEPT CELL BIOL CINCINNATI OH 45267 UNIV CINCINNATI,COLL MED,DEPT NEUROBIOL & ANAT CINCINNATI OH 45267 UNIV CINCINNATI,COLL MED,DEPT PATHOL & LAB MED CINCINNATI OH 45267
- Titolo Testata:
- Human molecular genetics
fascicolo: 10,
volume: 5,
anno: 1996,
pagine: 1607 - 1610
- SICI:
- 0964-6906(1996)5:10<1607:HMANAM>2.0.ZU;2-B
- Fonte:
- ISI
- Lingua:
- ENG
- Soggetto:
- DOPAMINE DEFICIENCY; MOUSE MODEL; CAFFEINE; DISEASE;
- Tipo documento:
- Article
- Natura:
- Periodico
- Settore Disciplinare:
- Science Citation Index Expanded
- Science Citation Index Expanded
- Citazioni:
- 15
- Recensione:
- Indirizzi per estratti:
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- Citazione:
- S.J. Engle et al., "HPRT-APRT-DEFICIENT MICE ARE NOT A MODEL FOR LESCH-NYHAN SYNDROME", Human molecular genetics, 5(10), 1996, pp. 1607-1610
Abstract
Complete hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in humans results in the Lesch-Nyhan syndrome which is characterized, among other features, by compulsive self-injurious behavior, HPRT-deficient mice generated using mouse embryonic stem cells exhibit none of the behavioral symptoms associated with the Lesch-Nyhan syndrome,Administration of drugs that inhibit adenine phosphoribosyltransferase (APRT) in HPRT-deficient mice has produced the suggestion that deficiency of APRT in combination with HPRT-deficiency in mice may lead to self-mutilation behavior [C. L. Wu and D. W. Melton (1993) Nature Genet, 3, 235-240], To test this proposition, we bred HPRT-APRT-deficient mice, Although the doubly-deficient mice excrete adenine and its highly insoluble derivative, 2,8-dihydroxyadenine, which are also associated with human APRT deficiency, additional abnormalities or any self-injurious behavior were not detected, Thus, APRT-HPRT-deficient mice, which are devoid of any purine salvage pathways, show no novel phenotype and are not a model for the behavioral abnormalities associated with the Lesch-Nyhan syndrome as previously suggested.
ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 19:10:20