Literature DB >> 8773595

Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43).

D M Mann1, T Iwatsubo, N J Cairns, P L Lantos, D Nochlin, S M Sumi, T D Bird, P Poorkaj, J Hardy, M Hutton, G Prihar, R Crook, M N Rossor, M Haltia.   

Abstract

Amyloid beta protein (Abeta) deposition was investigated in the frontal cortex of 8 cases of (genetically confirmed) chromosome 14-linked Alzheimer's disease (AD) using the end-specific monoclonal antibodies BA27 and BC05 to detect the presence of Abeta40 and Abeta42(43), respectively. In all patients, Abeta42(43) was the predominant peptide species present. The total amount of Abeta40 and Abeta42(43) deposited was more than twice the amount deposited in cases of sporadic AD of similar disease duration, although the ratio between the extent of Abeta40 and Abeta42(43) deposition was unaltered, compared with sporadic AD. Therefore, (one of) the effects of the mutations in the presenilin 1:PS-1 (S182) gene may be to cause or at least promote an early and excessive deposition of Abeta42(43) within the brain, a property shared with other inherited forms of AD, such as those due to amyloid precursor protein mutations, and Down's syndrome (trisomy 21).

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Year:  1996        PMID: 8773595     DOI: 10.1002/ana.410400205

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  33 in total

1.  Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease.

Authors:  D M Mann; S M Pickering-Brown; A Takeuchi; T Iwatsubo
Journal:  Am J Pathol       Date:  2001-06       Impact factor: 4.307

Review 2.  The genetics and neuropathology of Alzheimer's disease.

Authors:  Gerard D Schellenberg; Thomas J Montine
Journal:  Acta Neuropathol       Date:  2012-05-23       Impact factor: 17.088

3.  Presenilin is necessary for efficient proteolysis through the autophagy-lysosome system in a γ-secretase-independent manner.

Authors:  Kara M Neely; Kim N Green; Frank M LaFerla
Journal:  J Neurosci       Date:  2011-02-23       Impact factor: 6.167

4.  Clinical rationale of genetic testing in dementia.

Authors:  G B Frisoni; M Trabucchi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-03       Impact factor: 10.154

Review 5.  The Alzheimer family of diseases: many etiologies, one pathogenesis?

Authors:  J Hardy
Journal:  Proc Natl Acad Sci U S A       Date:  1997-03-18       Impact factor: 11.205

Review 6.  Genomic variants, genes, and pathways of Alzheimer's disease: An overview.

Authors:  Adam C Naj; Gerard D Schellenberg
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2017-01       Impact factor: 3.568

7.  Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome.

Authors:  Joseph H Lee; Maruit Chulikavit; Deborah Pang; Warren B Zigman; Wayne Silverman; Nicole Schupf
Journal:  Neurosci Lett       Date:  2007-08-25       Impact factor: 3.046

8.  Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype.

Authors:  James B Leverenz; Mark A Fishel; Elaine R Peskind; Thomas J Montine; David Nochlin; Ellen Steinbart; Murray A Raskind; Gerard D Schellenberg; Thomas D Bird; Debby Tsuang
Journal:  Arch Neurol       Date:  2006-03

9.  Update on the pharmacological treatment of Alzheimer's disease.

Authors:  Fadi Massoud; Serge Gauthier
Journal:  Curr Neuropharmacol       Date:  2010-03       Impact factor: 7.363

10.  Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study.

Authors:  Gregory S Day; Erik S Musiek; Catherine M Roe; Joanne Norton; Alison M Goate; Carlos Cruchaga; Nigel J Cairns; John C Morris
Journal:  JAMA Neurol       Date:  2016-09-01       Impact factor: 18.302

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