1. Catalog
  2. Nodes
  3. p(HGNC:PSEN1, var("?"))

p(HGNC:PSEN1, var("?"))

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

Entity

Name
PSEN1
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 4

Proteolytic processing of Alzeimer's beta-amyloid precursor protein v1.0.1

The Ubiquitin Proteasome System in Neurodegenerative Diseases: Sometimes the Chicken, Sometimes the Egg v1.0.0

Alzheimer’s disease and the autophagic-lysosomal system v1.0.0

The Ubiquitin–Proteasome System and the Autophagic–Lysosomal System in Alzheimer Disease v1.0.0

In-Edges 3

p(HGNC:PSEN1) hasVariant p(HGNC:PSEN1, var("?")) View Subject | View Object

Appears in Networks:

act(complex(GO:"gamma-secretase complex")) association p(HGNC:PSEN1, var("?")) View Subject | View Object

Finally, some patients express mutant presenilin proteins 1 and 2 (PS1 and PS2) that can change the processing of APP by altering gamma secretase activity, thereby promoting the generation of amyloidogenic Abeta (Hardy and Selkoe, 2002). PubMed:14556719

Appears in Networks:

path(MESH:"Alzheimer Disease") association p(HGNC:PSEN1, var("?")) View Subject | View Object

Furthermore, presenilin-1, the most common mutation associated with early-onset familial AD (FAD), plays an essential role in calcium homeostasis and maintaining acidic lysosomal pH, with FAD-associated mutations disrupting calcium-dependent vATPase function in lysosomes [7,18–20] PubMed:29758300

Appears in Networks:

Out-Edges 10

p(HGNC:PSEN1, var("?")) increases p(HGNC:APP, frag("672_713")) View Subject | View Object

Transgenic mice over-expressing PSs with FAD mutations show significantly increased Abeta42 levels, suggesting that PS mutations probably induce AD by producing more of the hydrophobic Abeta42 form (Duff et al. 1996; Qian et al. 1998) PubMed:22122372

Appears in Networks:
Annotations
Confidence
Medium
MeSH
Neurons

p(HGNC:PSEN1, var("?")) association act(complex(GO:"gamma-secretase complex")) View Subject | View Object

Finally, some patients express mutant presenilin proteins 1 and 2 (PS1 and PS2) that can change the processing of APP by altering gamma secretase activity, thereby promoting the generation of amyloidogenic Abeta (Hardy and Selkoe, 2002). PubMed:14556719

Appears in Networks:

p(HGNC:PSEN1, var("?")) increases a(CHEBI:"amyloid-beta") View Subject | View Object

Finally, some patients express mutant presenilin proteins 1 and 2 (PS1 and PS2) that can change the processing of APP by altering gamma secretase activity, thereby promoting the generation of amyloidogenic Abeta (Hardy and Selkoe, 2002). PubMed:14556719

Appears in Networks:

p(HGNC:PSEN1, var("?")) association path(MESH:"Alzheimer Disease") View Subject | View Object

Furthermore, presenilin-1, the most common mutation associated with early-onset familial AD (FAD), plays an essential role in calcium homeostasis and maintaining acidic lysosomal pH, with FAD-associated mutations disrupting calcium-dependent vATPase function in lysosomes [7,18–20] PubMed:29758300

Appears in Networks:

p(HGNC:PSEN1, var("?")) decreases act(a(MESH:"Vacuolar Proton-Translocating ATPases")) View Subject | View Object

Furthermore, presenilin-1, the most common mutation associated with early-onset familial AD (FAD), plays an essential role in calcium homeostasis and maintaining acidic lysosomal pH, with FAD-associated mutations disrupting calcium-dependent vATPase function in lysosomes [7,18–20] PubMed:29758300

Appears in Networks:

p(HGNC:PSEN1, var("?")) increases path(MESH:"Alzheimer Disease") View Subject | View Object

That presenilin 1 mutations, which are a cause of early-onset familial AD, impede lysosome proteolysis and accelerate neuritic dystrophy also supports a primary role for failure of proteolytic clearance (Lee et al. 2010). PubMed:22908190

Appears in Networks:

p(HGNC:PSEN1, var("?")) decreases bp(GO:"lysosomal protein catabolic process") View Subject | View Object

That presenilin 1 mutations, which are a cause of early-onset familial AD, impede lysosome proteolysis and accelerate neuritic dystrophy also supports a primary role for failure of proteolytic clearance (Lee et al. 2010). PubMed:22908190

Appears in Networks:

p(HGNC:PSEN1, var("?")) decreases act(a(HBP:Neurites)) View Subject | View Object

That presenilin 1 mutations, which are a cause of early-onset familial AD, impede lysosome proteolysis and accelerate neuritic dystrophy also supports a primary role for failure of proteolytic clearance (Lee et al. 2010). PubMed:22908190

Appears in Networks:

p(HGNC:PSEN1, var("?")) decreases bp(GO:"pH reduction") View Subject | View Object

These observations suggest how PS1 mutations, which impede lysosomal acidification (Lee et al. 2010), may markedly accelerate and amplify neuritic dystrophy in AD PubMed:22908190

Appears in Networks:
Annotations
MeSH
Lysosomes
MeSH
Alzheimer Disease

p(HGNC:PSEN1, var("?")) decreases act(a(MESH:Neurites)) View Subject | View Object

These observations suggest how PS1 mutations, which impede lysosomal acidification (Lee et al. 2010), may markedly accelerate and amplify neuritic dystrophy in AD PubMed:22908190

Appears in Networks:
Annotations
MeSH
Lysosomes
MeSH
Alzheimer Disease

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.