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Analysis of institutional authors

Joaquin G-LAuthor

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November 20, 2023
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The unfolded protein response and its potential role in Huntington's disease elucidated by a systems biology approach

Publicated to: F1000research. 4 - 2015-01-01 4(), DOI: 10.12688/f1000research.6358.2

Authors:

Matthias E F; Ravi Kiran Reddy K; Joaquin G-L; Susana M; Kameshwar RS Ayasolla
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Affiliations

Centre for Biomedical Research (CBMR), University of Algarve, Faro, 8005-139, Portugal - Author
Centre for Biomedical Research (CBMR), University of Algarve, Faro, 8005-139, Portugal, Centre of Marine Sciences (CCMAR), University of Algarve, Faro, 8005-139, Portugal - Author

Abstract

Huntington's disease (HD) is a progressive, neurodegenerative disease with a fatal outcome. Although the disease-causing gene (huntingtin) has been known for over 20 years, the exact mechanisms leading to neuronal cell death are still controversial. One potential mechanism contributing to the massive loss of neurons observed in the brain of HD patients could be the unfolded protein response (UPR) activated by accumulation of misfolded proteins in the endoplasmic reticulum (ER). As an adaptive response to counter-balance accumulation of un- or misfolded proteins, the UPR upregulates transcription of chaperones, temporarily attenuates new translation, and activates protein degradation via the proteasome. However, persistent ER stress and an activated UPR can also cause apoptotic cell death. Although different studies have indicated a role for the UPR in HD, the evidence remains inconclusive. Here, we present extensive bioinformatic analyses that revealed UPR activation in different experimental HD models based on transcriptomic data. Accordingly, we have identified 58 genes, including RAB5A, HMGB1, CTNNB1, DNM1, TUBB, TSG101, EEF2, DYNC1H1 and SLC12A5that provide a potential link between UPR and HD. To further elucidate the potential role of UPR as a disease-relevant process, we examined its connection to apoptosis based on molecular interaction data, and identified a set of 40 genes including ADD1, HSP90B1, IKBKB, IKBKG, RPS3A and LMNB1, which seem to be at the crossroads between these two important cellular processes. © Usage Licensed by Creative Commons CC-BY 3.0.
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Keywords

Add1 geneApoptosisArticleBioinformaticsCell lossChaperoneCtnnb1 geneDegenerative diseaseDisease associationDisease modelDnm1 geneDync1h1 geneEef2 geneEndoplasmic reticulumEndoplasmic reticulum stressGeneGene identificationHmgb1 geneHsp90b1 geneHumanHuntingtinHuntington choreaIkbkb geneIkbkg geneLmnb1 geneMolecular interactionNerve cell necrosisNonhumanPathogenesisProteasomeProtein degradationProtein unfoldingRab5a geneRps3a geneSlc12a5 geneSystems biologyTranscription initiationTranscriptomicsTsg101 geneTubb geneUnfolded protein responseUpregulation

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal F1000research due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2015, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Pharmacology, Toxicology and Pharmaceutics (Miscellaneous).

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-12-21:

  • Scopus: 26
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Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-12-21:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 57.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 57 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 5.

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
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Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Portugal.

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