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Titolo:
R127W-HNF-4 alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1
Autore:
Yang, Q; Yamagata, K; Yamamoto, K; Cao, Y; Miyagawa, J; Fukamizu, A; Hanafusa, T; Matsuzawa, Y;
Indirizzi:
Osaka Univ, Grad Sch Med, Dept Internal Med & Mol Sci, Suita, Osaka 5650871, Japan Osaka Univ Suita Osaka Japan 5650871 Mol Sci, Suita, Osaka 5650871, Japan Osaka Univ, Dept Gen Med, Osaka, Japan Osaka Univ Osaka JapanOsaka Univ, Dept Gen Med, Osaka, Japan Univ Tsukuba, Inst Appl Biochem, Ctr Tsukuba Adv Res Alliance, Tsukuba, Ibaraki 305, Japan Univ Tsukuba Tsukuba Ibaraki Japan 305 iance, Tsukuba, Ibaraki 305, Japan
Titolo Testata:
DIABETOLOGIA
fascicolo: 4, volume: 43, anno: 2000,
pagine: 520 - 524
SICI:
0012-186X(200004)43:4<520:RAIALO>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
YOUNG MODY1; GENE;
Keywords:
MODY; HNF-4 alpha; HNF-1 alpha; L-type pyruvate kinase; insulin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Yamagata, K Osaka Univ, Grad Sch Med, Dept Internal Med & Mol Sci, 2-2 Yamadaoka,B5, Suita, Osaka 5650871, Japan Osaka Univ 2-2 Yamadaoka,B5 Suita Osaka Japan 5650871 1, Japan
Citazione:
Q. Yang et al., "R127W-HNF-4 alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1", DIABETOLOG, 43(4), 2000, pp. 520-524

Abstract

Aims/hypothesis. Mutations in the hepatocyte nuclear factor (HNF)-4 alpha gene cause the type 1 form of maturity-onset diabetes of the young (MODY1). The R127W mutation is a missense mutation located in the T-box region of HNF-4 alpha that was first identified in a Japanese family with MODY. We have examined the functional properties of this mutation in order to clarify the molecular basis of MODY1. Methods. The intracellular localisation, DNA binding ability, transactivation activity and functional synergism with the coactivator CREB-binding protein (CBP) of R127W-HNF-4 alpha were investigated. Results. The nuclear import and functional synergy with CBP of R127W-HNF-4 alpha were normal. The DNA binding ability of the mutant was decreased as was its transcriptional activation of the HNF-1 alpha and L-type pyruvate kinase (PKL) genes, Conclusion/interpretation. The R127W mutation seems to be a loss-of-function mutation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 16/07/20 alle ore 18:00:03