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

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

Entity

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

Appears in Networks 3

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

Alpha-synuclein oligomers: a new hope v1.0.0

Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing v1.0.0

In-Edges 2

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

Appears in Networks:

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

First, autosomal recessive forms of early-onset PD are associated with mutations in PTEN-induced putative kinase protein 1 (PINK1) and the E3 ubiquitin-protein ligase parkin; these mutations lead to deficits in the mitophagic removal of damaged mitochondria 69,70 (BOX 2) . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Parkinson Disease

Out-Edges 9

p(HGNC:PRKN, var("?")) increases path(MESH:"Parkinsonian Disorders") View Subject | View Object

Various deletion and point mutations in the gene have been found in ~50% of patients with AR-JP (known also as Autosomal Recessive Parkinson’s Disease [ARPD]), one of the most common familial forms of PD (Kitada et al., 1998). PubMed:14556719

Appears in Networks:

p(HGNC:PRKN, var("?")) decreases act(p(HGNC:PRKN)) View Subject | View Object

An interesting finding is that not all mutations found in Parkin in AR-JP patients are inactivatingmutations (see,for example, Chung et al., 2001; Corti et al., 2003; Imai et al., 2001 PubMed:14556719

Appears in Networks:
Annotations
MeSH
Parkinsonian Disorders

p(HGNC:PRKN, var("?")) increases p(HGNC:PRKN) View Subject | View Object

The overriding hypothesis is that a defect in Parkin will result in accumulation of this protein(s), which is toxic to the dopaminergic neurons PubMed:14556719

Appears in Networks:

p(HGNC:PRKN, var("?")) decreases act(p(HGNC:SEPT5)) View Subject | View Object

It is possible that CDCrel-1 is involved in regulating transmitter release via its role in regulating synaptic vesicle dynamics, and its accumulation in patients with a mutation in Parkin perturbs the process. PubMed:14556719

Appears in Networks:

p(HGNC:PRKN, var("?")) causesNoChange deg(p(HGNC:SNCA)) View Subject | View Object

Therefore, patients with AR-JP—who cannot degrade it because of the mutation in the Parkin E3 (see above)—develop neurodegeneration PubMed:14556719

Appears in Networks:
Annotations
MeSH
Parkinsonian Disorders

p(HGNC:PRKN, var("?")) increases path(MESH:"Neurodegenerative Diseases") View Subject | View Object

Finally, Parkinson’s disease patients carrying familial mutations in the parkin gene, and some of those with the LRRK2 G2019S mutation, show neuronal degeneration in the absence of Lewy body formation [28, 50]. PubMed:28803412

Appears in Networks:
Annotations
Confidence
Medium

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

First, autosomal recessive forms of early-onset PD are associated with mutations in PTEN-induced putative kinase protein 1 (PINK1) and the E3 ubiquitin-protein ligase parkin; these mutations lead to deficits in the mitophagic removal of damaged mitochondria 69,70 (BOX 2) . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Parkinson Disease

p(HGNC:PRKN, var("?")) decreases bp(GO:mitophagy) View Subject | View Object

First, autosomal recessive forms of early-onset PD are associated with mutations in PTEN-induced putative kinase protein 1 (PINK1) and the E3 ubiquitin-protein ligase parkin; these mutations lead to deficits in the mitophagic removal of damaged mitochondria 69,70 (BOX 2) . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Parkinson Disease

p(HGNC:PRKN, var("?")) decreases bp(GO:"proteasome-mediated ubiquitin-dependent protein catabolic process") View Subject | View Object

Furthermore, mutations in the gene encoding parkin and several other genes are linked to reduced UPS activity 2,56,69,79,80 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Parkinson 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.