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Titolo:
A missense mutation encoding Cys(67) -> Gly in neurophysin II is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus
Autore:
DiMeglio, LA; Gagliardi, PC; Browning, JE; Quigley, CA; Repaske, DR;
Indirizzi:
Univ Cincinnati, Childrens Hosp, Med Ctr, Div Pediat Endocrinol, Cincinnati, OH 45229 USA Univ Cincinnati Cincinnati OH USA 45229 ocrinol, Cincinnati, OH 45229 USA Indiana Univ, Sch Med, James Whitcomb Riley Hosp Children, Dept Pediat,Sect Pediat Endocrinol & Diabetol, Indianapolis, IN USA Indiana Univ Indianapolis IN USA crinol & Diabetol, Indianapolis, IN USA
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 1, volume: 72, anno: 2001,
pagine: 39 - 44
SICI:
1096-7192(200101)72:1<39:AMMEC->2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
SIGNAL PEPTIDASE; VASOPRESSIN; GENE; IDENTIFICATION; KINDREDS; CLEAVAGE; SITE;
Keywords:
diabetes insipidus; magnocellular neuron; arginine vasopressin; neurophysin II; autosomal dominant neurohypophyseal diabetes insipidus; mutation; human; neurodegeneration;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Repaske, DR Univ Cincinnati, Childrens Hosp, Med Ctr, Div Pediat Endocrinol, CHRF-8548, Cincinnati, OH 45229 USA Univ Cincinnati CHRF-8548 CincinnatiOH USA 45229 OH 45229 USA
Citazione:
L.A. DiMeglio et al., "A missense mutation encoding Cys(67) -> Gly in neurophysin II is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus", MOL GEN MET, 72(1), 2001, pp. 39-44

Abstract

Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is an inherited disorder in which progressive degeneration of magnocellular neurons ofthe hypothalamus impairs production of arginine vasopressin (AVP). ADNDI is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII)gene. These mutations are hypothesized to trigger neurodegeneration via disruption of preproAVP-NPII processing. Affected individuals usually developdiabetes insipidus between 1 and 6 years of age. Here we report a novel mutation of the AVP-NPII gene in a family with unusually early presentation of ADNDI, The index case developed symptoms of diabetes insipidus at 1 monthof age, her mother at 9 months of age, and the maternal grandfather in early childhood. Each was found to be heterozygous for the missense mutation 1665T > G encoding the amino acid substitution C67G within NPII. This mutation helps to define two homologous regions of the AVP-NPII precursor boundedby disulfide bridges between C13 and C27 and between C61 and C73 that havestructural homology and contain the majority of amino acid substitutions associated with ADNDI, The early onset of symptomatic diabetes insipidus in this family suggests that the C67G: substitution may be particularly deleterious to magnocellular neurons and may provide a valuable model for study of dominantly inherited neurodegeneration. (C) 2001 Academic Press.

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Documento generato il 08/04/20 alle ore 11:47:29