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p(HGNC:SNCA, var("p.Ala53Thr"))

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

Entity

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

Appears in Networks 5

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

The Biology of Proteostasis in Aging and Disease 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

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

In-Edges 10

p(HGNC:SNCA) hasVariant p(HGNC:SNCA, var("p.Ala53Thr")) View Subject | View Object

Appears in Networks:

complex(p(HGNC:LAMP2), p(HGNC:SNCA, var("p.Ala53Thr"))) hasComponent p(HGNC:SNCA, var("p.Ala53Thr")) View Subject | View Object

Appears in Networks:

path(MESH:"Parkinson Disease") association p(HGNC:SNCA, var("p.Ala53Thr")) View Subject | View Object

In the late 1990s, it was reported that two mutations in the N-terminal domain of alphaSYN, A30P (Kruger et al., 1998) and A53T (Polymeropoulos et al., 1997), were associated with a rare form of autosomal-dominant familial PD PubMed:14556719

Appears in Networks:

a(PUBCHEM:1560402) decreases p(HGNC:SNCA, var("p.Ala53Thr")) View Subject | View Object

Treatment of PC12 cells stably expressing mutant α-synuclein (A53T) with SMER-10, -18, or-28 significantly reduced levels of mutant α-synuclein, an effect that was enhanced by cotreatment with rapamycin (146). PubMed:25784053

Appears in Networks:
Annotations
Cell Ontology (CL)
motor neuron

a(PUBCHEM:799645) decreases p(HGNC:SNCA, var("p.Ala53Thr")) View Subject | View Object

Treatment of PC12 cells stably expressing mutant α-synuclein (A53T) with SMER-10, -18, or-28 significantly reduced levels of mutant α-synuclein, an effect that was enhanced by cotreatment with rapamycin (146). PubMed:25784053

Appears in Networks:
Annotations
Cell Ontology (CL)
motor neuron

a(PUBCHEM:877863) decreases p(HGNC:SNCA, var("p.Ala53Thr")) View Subject | View Object

Treatment of PC12 cells stably expressing mutant α-synuclein (A53T) with SMER-10, -18, or-28 significantly reduced levels of mutant α-synuclein, an effect that was enhanced by cotreatment with rapamycin (146). PubMed:25784053

Appears in Networks:
Annotations
Cell Ontology (CL)
motor neuron

composite(a(CHEBI:sirolimus), a(PUBCHEM:1560402)) decreases p(HGNC:SNCA, var("p.Ala53Thr")) View Subject | View Object

Treatment of PC12 cells stably expressing mutant α-synuclein (A53T) with SMER-10, -18, or-28 significantly reduced levels of mutant α-synuclein, an effect that was enhanced by cotreatment with rapamycin (146). PubMed:25784053

Appears in Networks:
Annotations
Cell Ontology (CL)
motor neuron

composite(a(CHEBI:sirolimus), a(PUBCHEM:799645)) decreases p(HGNC:SNCA, var("p.Ala53Thr")) View Subject | View Object

Treatment of PC12 cells stably expressing mutant α-synuclein (A53T) with SMER-10, -18, or-28 significantly reduced levels of mutant α-synuclein, an effect that was enhanced by cotreatment with rapamycin (146). PubMed:25784053

Appears in Networks:
Annotations
Cell Ontology (CL)
motor neuron

composite(a(CHEBI:sirolimus), a(PUBCHEM:877863)) decreases p(HGNC:SNCA, var("p.Ala53Thr")) View Subject | View Object

Treatment of PC12 cells stably expressing mutant α-synuclein (A53T) with SMER-10, -18, or-28 significantly reduced levels of mutant α-synuclein, an effect that was enhanced by cotreatment with rapamycin (146). PubMed:25784053

Appears in Networks:
Annotations
Cell Ontology (CL)
motor neuron

a(CHEBI:curcumin) increases deg(p(HGNC:SNCA, var("p.Ala53Thr"))) View Subject | View Object

The natural product curcumin induced macro- autophagy and protected rotenone-treated dopaminer- gic neurons 141 in addition to accelerating the elimination of mutant α-synuclein-A53T by repressing mTORC1 in a cellular model of early-onset PD, although it also exerts other actions such as inhibition of p300-mediated pro- tein acetylation and of aggregation 142,143 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Machado-Joseph Disease

Out-Edges 3

p(HGNC:SNCA, var("p.Ala53Thr")) association path(MESH:"Parkinson Disease") View Subject | View Object

In the late 1990s, it was reported that two mutations in the N-terminal domain of alphaSYN, A30P (Kruger et al., 1998) and A53T (Polymeropoulos et al., 1997), were associated with a rare form of autosomal-dominant familial PD PubMed:14556719

Appears in Networks:

p(HGNC:SNCA, var("p.Ala53Thr")) increases a(HBP:"alpha-synuclein fibrils") View Subject | View Object

The mutant proteins have a higher tendency to generate protofibrils PubMed:14556719

Appears in Networks:

p(HGNC:SNCA, var("p.Ala53Thr")) increases path(MESH:"Parkinson Disease") View Subject | View Object

the point mutation in SNCA (A53T) was demonstrated to cause autosomal dominant Parkinson’s disease [126] and several other point mutations (A30P, E46K, H50Q, G51D and A53E) have since been shown to cause familial forms of Parkinson’s disease and dementia with Lewy bodies (DLB) [4, 79, 84, 119, 129, 167]. PubMed:28803412

Appears in Networks:
Annotations
Confidence
Medium

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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.