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Titolo:
The effects of A beta PP mutations and APOE polymorphisms on cerebral amyloid angiopathy
Autore:
Rebeck, GW; Cho, HS; Grabowski, TJ; Greenberg, SM;
Indirizzi:
Massachusetts Gen Hosp, Alzheimer Res Unit, Charlestown, MA 02129 USA Massachusetts Gen Hosp Charlestown MA USA 02129 Charlestown, MA 02129 USA Univ Iowa, Coll Med, Dept Neurol, Iowa City, IA USA Univ Iowa Iowa City IA USA owa, Coll Med, Dept Neurol, Iowa City, IA USA Univ Iowa, Coll Med, Dept Radiol, Iowa City, IA USA Univ Iowa Iowa City IA USA owa, Coll Med, Dept Radiol, Iowa City, IA USA
Titolo Testata:
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
, volume: 8, anno: 2001, supplemento:, 1
pagine: 43 - 47
SICI:
1350-6129(200107)8:<43:TEOABP>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
APOLIPOPROTEIN-E EPSILON-2; ALZHEIMERS-DISEASE; PROTEIN-PRECURSOR; TYPE-4 ALLELE; DEPOSITION; HEMORRHAGE; RECEPTOR; PEPTIDE; CELLS; ACCUMULATION;
Keywords:
genetics; Alzheimer's disease; immunohistochemistry; lipoprotein;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Rebeck, GW Massachusetts Gen Hosp, Alzheimer Res Unit, 149 13th St, Charlestown, MA 02129 USA Massachusetts Gen Hosp 149 13th St Charlestown MA USA 02129 USA
Citazione:
G.W. Rebeck et al., "The effects of A beta PP mutations and APOE polymorphisms on cerebral amyloid angiopathy", AMYLOID, 8, 2001, pp. 43-47

Abstract

Analysis of causative mutations and genetic risk factors aid in the understanding of important processes of cerebral amyloid angiopathy, (CAA) in humans. We identified a initiation at a novel site of the beta -amyloid precursor protein (A beta PP) gene associated with familial CAA; this initiation causes an aspartate to asparagine substitution at position 23 of the A betapeptide. Neuropathological analysis of a 68-year-old man with this mutation showed dramatic A beta deposition in blood vessels, diffuse parenchymal Abeta deposits, dystrophic neurites and neurofibrillary, tangles. The A beta deposition showed complete co-localization of A beta 40 and A beta 42, compared to the predominant A beta 42 deposition seen in AD. We hypothesize that the loss of an acidic residue at position 23 of A beta might be important in the process of A beta aggregation on smooth muscle cells on the cerebrovasculature. We also analyzed how the apolipoprotein E (APOE) gene might influence aggregation of A beta by examining the physical association of apoE domains with A beta via immunohistochemistry We found that the lipid-binding domain ofapoE was more strongly, associated with A beta than the receptor binding domain, and that 40% of all A beta deposits had no apoE bound to them, We suggest that the initial deposition of A beta occurs in the absence of apoE, and that the process of A beta deposit growth or stabilization is apoE-dependent.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/06/20 alle ore 23:51:00