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Analysis of institutional authors

Diaz-Nido, JavierAuthor

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November 5, 2024
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Prospects for the Use of Artificial Chromosomes and Minichromosome-Like Episomes in Gene Therapy

Publicated to: Journal of Biomedicine and Biotechnology. 2010 642804- - 2010-01-01 2010(), DOI: 10.1155/2010/642804

Authors:

Pérez-Luz, S; Díaz-Nido, J
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Affiliations

Univ Autonoma Madrid, Ctr Biol Mol Severo Ochoa CSIC UAM, E-28049 Madrid, Spain - Author
Univ Autonoma Madrid, Dept Biol Mol, E-28049 Madrid, Spain - Author

Abstract

Artificial chromosomes and minichromosome-like episomes are large DNA molecules capable of containing whole genomic loci, and be maintained as nonintegrating, replicating molecules in proliferating human somatic cells. Authentic human artificial chromosomes are very difficult to engineer because of the difficulties associated with centromere structure, so they are not widely used for gene-therapy applications. However, OriP/EBNA1-based episomes, which they lack true centromeres, can be maintained stably in dividing cells as they bind to mitotic chromosomes and segregate into daughter cells. These episomes are more easily engineered than true human artificial chromosomes and can carry entire genes along with all their regulatory sequences. Thus, these constructs may facilitate the long-termpersistence and physiological regulation of the expression of therapeutic genes, which is crucial for some gene therapy applications. In particular, they are promising vectors for gene therapy in inherited diseases that are caused by recessive mutations, for example haemophilia A and Friedreich's ataxia. Interestingly, the episome carrying the frataxin gene (deficient in Friedreich's ataxia) has been demonstrated to rescue the susceptibility to oxidative stress which is typical of fibroblasts from Friedreich's ataxia patients. This provides evidence of their potential to treat genetic diseases linked to recessive mutations through gene therapy.
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Keywords

Canine hemophilia-aChromosomes, artificial, humanClotting factor-viiiCoagulation-factor viiiDe-novo centromeresDna-binding proteinsEbv-encoded nuclear antigen 1Epstein-barr virus nuclear antigensEpstein-barr-virusEscherichia-coli dh10bFactor-ix genFrataxinFriedreich ataxiaFriedreich ataxia patientsGene expressionGenetic therapyHemophilia aHerpesvirus 4, humanHuman-factor-viiiHumansIron-binding proteinsMarrow stromal cellsPlasmids

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Journal of Biomedicine and Biotechnology, and although the journal is classified in the quartile Q3 (Agencia WoS (JCR)), its regional focus and specialization in Biotechnology & Applied Microbiology, give it significant recognition in a specific niche of scientific knowledge at an international level.

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 2026-04-02:

  • WoS: 5
  • Scopus: 6
  • Europe PMC: 2
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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 2026-04-02:

  • 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: 61.
  • 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: 61 (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: 19.
  • The number of mentions on the social network Facebook: 3 (Altmetric).
  • The number of mentions on the social network X (formerly Twitter): 6 (Altmetric).

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

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Perez-Luz, Sara) and Last Author (DIAZ NIDO, JAVIER).

the author responsible for correspondence tasks has been Perez-Luz, Sara.

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Awards linked to the item

the work on gene therapy in the authors lab is supported by Grants from the "Plan Nacional de Investigacion en Biomedicina" (SAF 2006-12782-C03-02 and SAF2009-10757), the "Comunidad Autonoma deMadrid" (Neurodegmodels, Ref S-SAL-0202-2006) and the "Fundacion Alicia Koplowitz". The Biomedical Network Research Centre for Rare Diseases "Centro de Investigacion Biomedica en Red sobre Enfermedades Raras" (CIBERER) is supported by the "Instituto de Salud Carlos III" (ISC III). The authors also want to acknowledge Dr. Mark Sefton for paper revision.
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