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Entity

Name
Niemann-Pick Diseases
Namespace
mesh
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/mesh-names.belns

Appears in Networks 5

In-Edges 6

p(HBP:"3R tau") positiveCorrelation path(MESH:"Niemann-Pick Diseases") View Subject | View Object

On the other side, sarkosyl extracts from the filaments of PSP [129], corticobasal degeneration (CBD; [130]), argyrophilic grain disease (AgD; [131]), and some cases of FTDP-17, contain tau protein that separates as doublets of 64 and 69 kDa and are predominantly composed of tau isoforms with 4R (class II tauopathies), whereas sarkosyl extracts from filaments of Pick’s disease are characterized by the presence of pathological tau doublets of 60 and 64 kDa and contain mainly 3R tau isoforms (class III tauopathy). PubMed:26751493

p(HGNC:PSEN1, var("p.Gly183Val")) positiveCorrelation path(MESH:"Niemann-Pick Diseases") View Subject | View Object

A PSEN1 mutation causes a Pick’s disease phenotype including FTD tau pathology without deposition of Abeta [145]; some MAPT single nucleotide polymorphisms have also been linked to sporadic Parkinson’s disease (PD, [146]); PubMed:26751493

p(HGNC:MAPT) association path(MESH:"Niemann-Pick Diseases") View Subject | View Object

Dysregulation of tau proteins can produce a spectrum of neurodegenerative diseases or tauopathies characterized by dementia and tau deposition, including AD, frontotemporal dementia (FTD), Niemann- Pick disease, corticobasal degeneration (CBD), tangle-only dementia (TOD) and progressive supranuclear palsy (PSP). PubMed:29758300

p(HBP:"UBB+1") positiveCorrelation path(MESH:"Niemann-Pick Diseases") View Subject | View Object

UBB+1 protein accumulates in brains affected by AD and other diseases such as Pick’s disease and Huntington’s disease (Fischer et al. 2003). PubMed:22908190

p(HBP:"3R tau") positiveCorrelation path(MESH:"Niemann-Pick Diseases") View Subject | View Object

Tauopathies can be classified into three groups on the basis of the tau isoforms found in the aggregates: 4R tauopathies (including PSP, CBD and AGD), 3R tauopathies (for example, PiD) and 3R+4R tauopathies (for example, AD) PubMed:26631930

p(HGNC:MAPT, pmod(Ac, Lys, 280)) positiveCorrelation path(MESH:"Niemann-Pick Diseases") View Subject | View Object

By contrast, acetylation of tau at Lys280 has been detected in AD and other tauopathies, including AGD, tangle-predominant senile dementia (TPSD), PiD, FTDP‑17 and PSP, and is pathological PubMed:26631930

Out-Edges 6

path(MESH:"Niemann-Pick Diseases") positiveCorrelation p(HBP:"3R tau") View Subject | View Object

On the other side, sarkosyl extracts from the filaments of PSP [129], corticobasal degeneration (CBD; [130]), argyrophilic grain disease (AgD; [131]), and some cases of FTDP-17, contain tau protein that separates as doublets of 64 and 69 kDa and are predominantly composed of tau isoforms with 4R (class II tauopathies), whereas sarkosyl extracts from filaments of Pick’s disease are characterized by the presence of pathological tau doublets of 60 and 64 kDa and contain mainly 3R tau isoforms (class III tauopathy). PubMed:26751493

path(MESH:"Niemann-Pick Diseases") positiveCorrelation p(HGNC:PSEN1, var("p.Gly183Val")) View Subject | View Object

A PSEN1 mutation causes a Pick’s disease phenotype including FTD tau pathology without deposition of Abeta [145]; some MAPT single nucleotide polymorphisms have also been linked to sporadic Parkinson’s disease (PD, [146]); PubMed:26751493

path(MESH:"Niemann-Pick Diseases") association p(HGNC:MAPT) View Subject | View Object

Dysregulation of tau proteins can produce a spectrum of neurodegenerative diseases or tauopathies characterized by dementia and tau deposition, including AD, frontotemporal dementia (FTD), Niemann- Pick disease, corticobasal degeneration (CBD), tangle-only dementia (TOD) and progressive supranuclear palsy (PSP). PubMed:29758300

path(MESH:"Niemann-Pick Diseases") positiveCorrelation p(HBP:"UBB+1") View Subject | View Object

UBB+1 protein accumulates in brains affected by AD and other diseases such as Pick’s disease and Huntington’s disease (Fischer et al. 2003). PubMed:22908190

path(MESH:"Niemann-Pick Diseases") positiveCorrelation p(HBP:"3R tau") View Subject | View Object

Tauopathies can be classified into three groups on the basis of the tau isoforms found in the aggregates: 4R tauopathies (including PSP, CBD and AGD), 3R tauopathies (for example, PiD) and 3R+4R tauopathies (for example, AD) PubMed:26631930

path(MESH:"Niemann-Pick Diseases") positiveCorrelation p(HGNC:MAPT, pmod(Ac, Lys, 280)) View Subject | View Object

By contrast, acetylation of tau at Lys280 has been detected in AD and other tauopathies, including AGD, tangle-predominant senile dementia (TPSD), PiD, FTDP‑17 and PSP, and is pathological PubMed:26631930

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.