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NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases

BACKGROUND: Neurodegenerative diseases (NDs) are characterized by the progressive loss of neurons in the human brain. Although the majority of NDs are sporadic, evidence is accumulating that they have a strong genetic component. Therefore, significant efforts have been made in recent years to not on...

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Autores principales: Na, Dokyun, Rouf, Mushfiqur, O’Kane, Cahir J, Rubinsztein, David C, Gsponer, Jörg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833180/
https://www.ncbi.nlm.nih.gov/pubmed/24229347
http://dx.doi.org/10.1186/1755-8794-6-52
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author Na, Dokyun
Rouf, Mushfiqur
O’Kane, Cahir J
Rubinsztein, David C
Gsponer, Jörg
author_facet Na, Dokyun
Rouf, Mushfiqur
O’Kane, Cahir J
Rubinsztein, David C
Gsponer, Jörg
author_sort Na, Dokyun
collection PubMed
description BACKGROUND: Neurodegenerative diseases (NDs) are characterized by the progressive loss of neurons in the human brain. Although the majority of NDs are sporadic, evidence is accumulating that they have a strong genetic component. Therefore, significant efforts have been made in recent years to not only identify disease-causing genes but also genes that modify the severity of NDs, so-called genetic modifiers. To date there exists no compendium that lists and cross-links genetic modifiers of different NDs. DESCRIPTION: In order to address this need, we present NeuroGeM, the first comprehensive knowledgebase providing integrated information on genetic modifiers of nine different NDs in the model organisms D. melanogaster, C. elegans, and S. cerevisiae. NeuroGeM cross-links curated genetic modifier information from the different NDs and provides details on experimental conditions used for modifier identification, functional annotations, links to homologous proteins and color-coded protein-protein interaction networks to visualize modifier interactions. We demonstrate how this database can be used to generate new understanding through meta-analysis. For instance, we reveal that the Drosophila genes DnaJ-1, thread, Atx2, and mub are generic modifiers that affect multiple if not all NDs. CONCLUSION: As the first compendium of genetic modifiers, NeuroGeM will assist experimental and computational scientists in their search for the pathophysiological mechanisms underlying NDs. http://chibi.ubc.ca/neurogem.
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spelling pubmed-38331802013-11-20 NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases Na, Dokyun Rouf, Mushfiqur O’Kane, Cahir J Rubinsztein, David C Gsponer, Jörg BMC Med Genomics Database BACKGROUND: Neurodegenerative diseases (NDs) are characterized by the progressive loss of neurons in the human brain. Although the majority of NDs are sporadic, evidence is accumulating that they have a strong genetic component. Therefore, significant efforts have been made in recent years to not only identify disease-causing genes but also genes that modify the severity of NDs, so-called genetic modifiers. To date there exists no compendium that lists and cross-links genetic modifiers of different NDs. DESCRIPTION: In order to address this need, we present NeuroGeM, the first comprehensive knowledgebase providing integrated information on genetic modifiers of nine different NDs in the model organisms D. melanogaster, C. elegans, and S. cerevisiae. NeuroGeM cross-links curated genetic modifier information from the different NDs and provides details on experimental conditions used for modifier identification, functional annotations, links to homologous proteins and color-coded protein-protein interaction networks to visualize modifier interactions. We demonstrate how this database can be used to generate new understanding through meta-analysis. For instance, we reveal that the Drosophila genes DnaJ-1, thread, Atx2, and mub are generic modifiers that affect multiple if not all NDs. CONCLUSION: As the first compendium of genetic modifiers, NeuroGeM will assist experimental and computational scientists in their search for the pathophysiological mechanisms underlying NDs. http://chibi.ubc.ca/neurogem. BioMed Central 2013-11-14 /pmc/articles/PMC3833180/ /pubmed/24229347 http://dx.doi.org/10.1186/1755-8794-6-52 Text en Copyright © 2013 Na et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database
Na, Dokyun
Rouf, Mushfiqur
O’Kane, Cahir J
Rubinsztein, David C
Gsponer, Jörg
NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases
title NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases
title_full NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases
title_fullStr NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases
title_full_unstemmed NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases
title_short NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases
title_sort neurogem, a knowledgebase of genetic modifiers in neurodegenerative diseases
topic Database
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833180/
https://www.ncbi.nlm.nih.gov/pubmed/24229347
http://dx.doi.org/10.1186/1755-8794-6-52
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