A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of βamyloid

…, K Axelman, H Houlden, L Lilius, B Winblad… - … genetics, 1992 - nature.com
… A double mutation in APP exon 16 We decided to sequence exons 16 and 17 of the APP
gene as these encode ß-amyloid. Two base pair (bp) transversions (G to T and A to C) were …

Genetics of β-amyloid precursor protein in Alzheimer's disease

TCW Julia, AM Goate - Cold Spring …, 2017 - perspectivesinmedicine.cshlp.org
… Early-onset fAD, which represents <1% of AD cases, is caused by rare and fully
penetrant mutations in three different genes encoding β-amyloid precursor protein (APP) on …

Role of the βamyloid protein in Alzheimer's disease

SS Sisodia, DL Price - The FASEB Journal, 1995 - Wiley Online Library
… Finally, recent molecular genetic investigations have identified a variety of mutations in …
of APP and Aβ in the context of AD.—Sisodia, SS, Price, DL Role of the βamyloid protein in …

[HTML][HTML] β-Amyloid precursor protein (APP) and the human diseases

KV Nguyen - AIMS neuroscience, 2019 - ncbi.nlm.nih.gov
… Then, the results showed that expression of the APP gene is under epigenetic regulation
caused by genetic and environmental factors as well as life events and aging [3],[18]–[20], and …

Genetic background regulates β-amyloid precursor protein processing and β-amyloid deposition in the mouse

EJH Lehman, LS Kulnane, Y Gao… - … molecular genetics, 2003 - academic.oup.com
genetic background impacts several steps leading from APP processing to Aβ metabolism
and Aβ deposition. First, the choice between α- and β-secretase cleavage in APP … CTF β in the …

Modulation of secreted β-amyloid precursor protein and amyloid β-peptide in brain by cholesterol

DS Howland, SP Trusko, MJ Savage… - Journal of Biological …, 1998 - ASBMB
… Here, we have examined the impact of dietary cholesterol and apoE on APP processing
and Aβ levels using the APP gene-targeted mice. Cholesterol is an integral component of all …

Alzheimer's disease: βAmyloid protein and tau

M Morishima‐Kawashima… - Journal of neuroscience …, 2002 - Wiley Online Library
… missense mutation at codon 717 of APP was identified in the two … APP gene was the first
identified causative gene for FAD (Table I). This established a view that AD is not a single-gene

… of transgenic rats producing human β-amyloid precursor protein as a model for Alzheimer's disease: Transgene and endogenous APP genes are regulated tissue …

C Agca, JJ Fritz, LC Walker, AI Levey, AWS Chan… - BMC neuroscience, 2008 - Springer
… The APP21 rat line expresses high levels of human APP and could be a … of APP gene
regulation. Determination of the elements that are responsible for tissue-specific expression of APP

The fetal basis of amyloidogenesis: exposure to lead and latent overexpression of amyloid precursor protein and β-amyloid in the aging brain

MR Basha, W Wei, SA Bakheet, N Benitez… - Journal of …, 2005 - Soc Neuroscience
… To determine whether developmental exposure to Pb resulted in long-term alterations in
the expression of APP, we examined the lifelong expression of the APP gene. We also …

MicroRNA networks surrounding APP and amyloid-β metabolism—implications for Alzheimer's disease

N Schonrock, M Matamales, LM Ittner, J Götz - Experimental neurology, 2012 - Elsevier
… regulation of the amyloid precursor protein (APP) from which … to any changes in APP
metabolism and miRNAs function at … either in the APP gene itself or in the PSEN1 and 2 genes that …