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p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu"))

Equivalencies: 0 | Classes: 0 | Children: 0 | Explore

Entity

Name
APP
Namespace
hgnc
Namespace Version
20180828
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/1b20f0637c395f8aa89c2e2e342d7b704062c242/external/hgnc-symbols.belns

Appears in Networks 2

A role for APP in Wnt signalling links synapse loss with β-amyloid production. v1.0.0

Nicotinic Receptor Abnormalities of Alzheimer’s Disease: Therapeutic Implications v1.0.0

In-Edges 3

p(HGNC:APP) hasVariant p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) View Subject | View Object

Appears in Networks:

p(FPLX:CHRN) negativeCorrelation p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) View Subject | View Object

Significant reductions in the number of nAChRs were measured in cortical regions of Swedish APP 670/ 671 mutation (273% to 287%) (Marutle et al 1999) PubMed:11230871

Appears in Networks:
Annotations
MeSH
Cerebral Cortex

act(p(HGNC:APP)) association p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) View Subject | View Object

This mutation at codon 670/671 on the APP gene on chromosome 21 was discovered in a Swedish family, and the mutation is unique in the sense that it is the only AD mutation that has been shown to alter the APP metabolism, resulting in an overexpression of the amyloid leading to plaque formation (Mullan et al 1992) PubMed:11230871

Appears in Networks:

Out-Edges 6

p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) decreases bp(GO:"canonical Wnt signaling pathway") View Subject | View Object

In contrast with wild-type APP which, as before, potentiated both canonical and non-canonical Wnt signalling, the Swedish mutant form of APP antagonised canonical Wnt signalling (Fig. 2a), and potentiated non-canonical Wnt signalling to a greater degree than wild-type APP (APPWT) (Fig. 2b). PubMed:30232325

Appears in Networks:
Annotations
Confidence
High

p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) increases bp(GO:"non-canonical Wnt signaling pathway") View Subject | View Object

In contrast with wild-type APP which, as before, potentiated both canonical and non-canonical Wnt signalling, the Swedish mutant form of APP antagonised canonical Wnt signalling (Fig. 2a), and potentiated non-canonical Wnt signalling to a greater degree than wild-type APP (APPWT) (Fig. 2b). PubMed:30232325

Appears in Networks:
Annotations
Confidence
High

p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) increases a(CHEBI:"amyloid-beta") View Subject | View Object

As expected, cells expressing the Swedish mutant form of APP695 produced much more Aβ than the control wildtype-expressing cells. PubMed:30232325

Appears in Networks:
Annotations
Confidence
High

p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) association act(p(HGNC:APP)) View Subject | View Object

This mutation at codon 670/671 on the APP gene on chromosome 21 was discovered in a Swedish family, and the mutation is unique in the sense that it is the only AD mutation that has been shown to alter the APP metabolism, resulting in an overexpression of the amyloid leading to plaque formation (Mullan et al 1992) PubMed:11230871

Appears in Networks:

p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) increases path(MESH:"Plaque, Amyloid") View Subject | View Object

This mutation at codon 670/671 on the APP gene on chromosome 21 was discovered in a Swedish family, and the mutation is unique in the sense that it is the only AD mutation that has been shown to alter the APP metabolism, resulting in an overexpression of the amyloid leading to plaque formation (Mullan et al 1992) PubMed:11230871

Appears in Networks:

p(HGNC:APP, var("p.Lys670Asn"), var("p.Met671Leu")) negativeCorrelation p(FPLX:CHRN) View Subject | View Object

Significant reductions in the number of nAChRs were measured in cortical regions of Swedish APP 670/ 671 mutation (273% to 287%) (Marutle et al 1999) PubMed:11230871

Appears in Networks:
Annotations
MeSH
Cerebral Cortex

About

BEL Commons is developed and maintained in an academic capacity by Charles Tapley Hoyt and Daniel Domingo-Fernández at the Fraunhofer SCAI Department of Bioinformatics with support from the IMI project, AETIONOMY. It is built on top of PyBEL, an open source project. Please feel free to contact us here to give us feedback or report any issues. Also, see our Publishing Notes and Data Protection information.

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.