p(HGNC:APP, var("?"))
Similar neuritic dystrophy eventually develops in all forms of AD and in mouse AD models where only FAD-causingmutant APP is overexpressed. PubMed:22908190
App promoter polymorphisms that increase APP expression are also associated with early-onset AD (Athan et al. 2002). PubMed:22908190
These findings support a longstanding hypothesis that the App gene on the trisomic copy of human chromosome 21 (HSA21) in Down syndrome (DS) is principally responsible for the invariant early development of AD in DS individuals (Margallo-Lana et al. 2004). PubMed:22908190
More than 25 mutations in APP have been identified that are causative of the hereditary form of familial AD and a related condition of hereditary cerebral amyloid angiopathy. PubMed:18650430
More than 25 mutations in APP have been identified that are causative of the hereditary form of familial AD and a related condition of hereditary cerebral amyloid angiopathy. PubMed:18650430
They have demonstrated that AD can be caused by mutations in the APP gene, either in the vicinity of the secretase cleavage sites, causing abnormal APP processing, or in the sequence coding for Abeta, giving rise to a peptide that is more likely to self-aggregate PubMed:14556719
They have demonstrated that AD can be caused by mutations in the APP gene, either in the vicinity of the secretase cleavage sites, causing abnormal APP processing, or in the sequence coding for Abeta, giving rise to a peptide that is more likely to self-aggregate PubMed:14556719
App promoter polymorphisms that increase APP expression are also associated with early-onset AD (Athan et al. 2002). PubMed:22908190
These findings support a longstanding hypothesis that the App gene on the trisomic copy of human chromosome 21 (HSA21) in Down syndrome (DS) is principally responsible for the invariant early development of AD in DS individuals (Margallo-Lana et al. 2004). PubMed:22908190
In DS, the extra copy of App causes endocytic up-regulation and endosome pathology similar to that seen at the earliest stages of sporadic AD, but beginning even earlier PubMed:22908190
Similar neuritic dystrophy eventually develops in all forms of AD and in mouse AD models where only FAD-causingmutant APP is overexpressed. PubMed:22908190
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If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.