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Titolo:
NURR1 mutations in cases of schizophrenia and manic-depressive disorder
Autore:
Buervenich, S; Carmine, A; Arvidsson, M; Xiang, FQ; Zhang, ZP; Sydow, O; Jonsson, EG; Sedvall, GC; Leonard, S; Ross, RG; Freedman, R; Chowdari, KV; Nimgaonkar, VL; Perlmann, T; Anvret, M; Olson, L;
Indirizzi:
Karolinska Inst, Dept Neurosci, S-17177 Stockholm, Sweden Karolinska InstStockholm Sweden S-17177 osci, S-17177 Stockholm, Sweden Karolinska Hosp, Dept Clin Genet, Ctr Mol Med, S-10401 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-10401 Med, S-10401 Stockholm, Sweden Karolinska Inst, Dept Cell & Mol Biol, Ludwig Inst Canc Res, S-17177 Stockholm, Sweden Karolinska Inst Stockholm Sweden S-17177 Res, S-17177 Stockholm, Sweden Karolinska Inst, Neurol Sect, Dept Clin Neurosci, S-17177 Stockholm, Sweden Karolinska Inst Stockholm Sweden S-17177 osci, S-17177 Stockholm, Sweden Karolinska Inst, Danderyd Hosp, Div Neurol, S-18288 Danderyd, Sweden Karolinska Inst Danderyd Sweden S-18288 Neurol, S-18288 Danderyd, Sweden Karolinska Inst, Psychiat Sect, Dept Clin Neurosci, Stockholm, Sweden Karolinska Inst Stockholm Sweden Dept Clin Neurosci, Stockholm, Sweden Univ Colorado, Hlth Sci Ctr, Dept Psychiat, Denver, CO 80262 USA Univ Colorado Denver CO USA 80262 tr, Dept Psychiat, Denver, CO 80262 USA Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA USA Univ Pittsburgh Pittsburgh PA USA rgh, Dept Psychiat, Pittsburgh, PA USA Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA Univ Pittsburgh Pittsburgh PA USA , Dept Human Genet, Pittsburgh, PA USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 6, volume: 96, anno: 2000,
pagine: 808 - 813
SICI:
0148-7299(200012)96:6<808:NMICOS>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
RETINOIC ACID; NGFI-B; THYROID-HORMONE; DOPAMINE SYSTEM; RECEPTOR GENE; ORGANIZATION; MICE; ASSOCIATION; EXPRESSION; MECHANISM;
Keywords:
complex diseases; nervous system; genetic variant; nuclear orphan receptor; NGFI-B family; Parkinson;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Olson, L Karolinska Inst, Dept Neurosci, S-17177 Stockholm, Sweden Karolinska Inst Stockholm Sweden S-17177 7177 Stockholm, Sweden
Citazione:
S. Buervenich et al., "NURR1 mutations in cases of schizophrenia and manic-depressive disorder", AM J MED G, 96(6), 2000, pp. 808-813

Abstract

Transgenic mice lacking the nuclear orphan transcription factor Nur-related receptor 1 (Nurr1) fail to develop mesencephalic dopamine neurons. There is a highly homologous NURR1 gene in humans (formerly known as NOT) which therefore constitutes a good candidate gene for neurologic and psychiatric disorders with an involvement of the dopamine neuron system, such as Parkinson's disease, schizophrenia, and manic-depression. By direct sequencing of genomic DNA, we found two different missense mutations in the third exon ofNURR1 in two schizophrenic patients and another missense mutation in the same exon in an individual with manic-depressive disorder. All three mutations caused a similar reduction of in vitro transcriptional activity of NURR1dimers of about 30-40%. Neither of these amino acid changes, nor any sequence changes whatsoever, were found in patients with Parkinson's disease or control DNA material of normal populations. (C) 2000 Wiley Liss, Inc.

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Documento generato il 25/01/20 alle ore 19:15:43