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g(DBSNP:rs63751011)

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Entity

Name
rs63751011
Namespace
DBSNP
Namespace Version
None
Pattern
rs[0-9]+

Appears in Networks 1

MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations v1.0.0

In-Edges 0

Out-Edges 16

g(DBSNP:rs63751011) increases p(HGNC:MAP2) View Subject | View Object

Four weeks after terminal differentiation, 80% of cells were positive for the neuron-specific marker MAP2, and there was no significant difference between control and patient neurons (Figure S2A) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) causesNoChange a(GO:"symmetric, GABA-ergic, inhibitory synapse") View Subject | View Object

The percentages of VGLUT1-positive excitatory and GABA-positive inhibitory neurons were similar in neuronal cultures differentiated from control and patient iPSCs (Figures S2B and S2C) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) causesNoChange p(HGNC:SLC17A7) View Subject | View Object

The percentages of VGLUT1-positive excitatory and GABA-positive inhibitory neurons were similar in neuronal cultures differentiated from control and patient iPSCs (Figures S2B and S2C) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) causesNoChange p(HGNC:MAPT) View Subject | View Object

Moreover, the total expression levels of tau and PSD-95 were the same in 1-month-old neurons derived from control and patient iPSCs (Figure 1B) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) causesNoChange p(HGNC:DLGAP4) View Subject | View Object

Moreover, the total expression levels of tau and PSD-95 were the same in 1-month-old neurons derived from control and patient iPSCs (Figure 1B) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) causesNoChange bp(MESH:"Membrane Potentials") View Subject | View Object

The resting membrane potential did not differ among neurons differentiated from all iPSC lines (Figure S2D) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) causesNoChange bp(GO:"neuron differentiation") View Subject | View Object

Thus, both molecular and electrophysiological analyses suggest MAPT mutations do not affect early neuronal differentiation PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) increases act(p(HGNC:MMP9)) View Subject | View Object

Tau-A152T neurons had >10-fold higher level and activity of secreted MMP-9 than control neurons (Figures 2A and 2B), as did MAPT IVS10+16 neurons to a lesser extent (Figures 2C and 2D) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) increases sec(p(HGNC:MMP9)) View Subject | View Object

Tau-A152T neurons had >10-fold higher level and activity of secreted MMP-9 than control neurons (Figures 2A and 2B), as did MAPT IVS10+16 neurons to a lesser extent (Figures 2C and 2D) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) increases r(HGNC:MMP9) View Subject | View Object

This increase is likely in part due to transcriptional regulation, since the mRNA levels of MMP-9 and MMP-2 in tau-A152T and MAPT IVS10+16 neurons were higher than in control neurons (Figure S2J) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) increases r(HGNC:MMP9) View Subject | View Object

MMP-9/MMP-2 mRNA levels in tau-A152T and MAPT IVS10+16 neurons were significantly higher than that in control neurons (Figure S2J), and rapamycin increased these levels (p < 0.01) (Figure 3C) PubMed:27594586

Appears in Networks:
Annotations
MeSH
Extracellular Space
Confidence
High
MeSH
Cerebral Cortex
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) increases r(HGNC:MMP2) View Subject | View Object

This increase is likely in part due to transcriptional regulation, since the mRNA levels of MMP-9 and MMP-2 in tau-A152T and MAPT IVS10+16 neurons were higher than in control neurons (Figure S2J) PubMed:27594586

Appears in Networks:
Annotations
Confidence
High
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) increases r(HGNC:MMP2) View Subject | View Object

MMP-9/MMP-2 mRNA levels in tau-A152T and MAPT IVS10+16 neurons were significantly higher than that in control neurons (Figure S2J), and rapamycin increased these levels (p < 0.01) (Figure 3C) PubMed:27594586

Appears in Networks:
Annotations
MeSH
Extracellular Space
Confidence
High
MeSH
Cerebral Cortex
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) increases bp(GO:"neuron death") View Subject | View Object

We found that, indeed, TUJ1+ neurons showed reduced survival as measured by TUNEL analysis (Figure 3A) PubMed:27594586

Appears in Networks:
Annotations
MeSH
Extracellular Space
Confidence
High
MeSH
Cerebral Cortex
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) increases a(HBP:HBP00045) View Subject | View Object

As expected, the 4R/3R tau ratio is greatly increased in MAPT IVS10+16 neurons (Figure S3F) but not in GRN mutant neurons (Figure S3G) PubMed:27594586

Appears in Networks:
Annotations
Confidence
Medium
MeSH
Cerebral Cortex
MeSH
Neurons
MeSH
Frontotemporal Dementia

g(DBSNP:rs63751011) decreases a(HBP:HBP00044) View Subject | View Object

As expected, the 4R/3R tau ratio is greatly increased in MAPT IVS10+16 neurons (Figure S3F) but not in GRN mutant neurons (Figure S3G) PubMed:27594586

Appears in Networks:
Annotations
Confidence
Medium
MeSH
Cerebral Cortex
MeSH
Neurons
MeSH
Frontotemporal Dementia

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.