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Analysis of institutional authors

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May 20, 2024
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Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice.

Publicated to:EPILEPSY RESEARCH. 200 107317- - 2024-02-01 200(), DOI: 10.1016/j.eplepsyres.2024.107317

Authors: Zafra-Puerta L; Colpaert M; Iglesias-Cabeza N; Burgos DF; Sánchez-Martín G; Gentry MS; Sánchez MP; Serratosa JM

Affiliations

Department of Biochemistry & Molecular Biology, College of Medicine, University of Florida, Gainesville, FL 32605, USA. Electronic address: matthew.gentry@ufl.edu. - Author
Department of Biochemistry & Molecular Biology, College of Medicine, University of Florida, Gainesville, FL 32605, USA. Electronic address: matthieucolpaert@gmail.com. - Author
Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: gsinfan - Author
Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: joseser - Author
Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: msanche - Author
Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: nerea.i - Author
Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; PhD Program in Neuroscience - Author
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Abstract

Lafora disease is a rare and fatal form of progressive myoclonic epilepsy with onset during early adolescence. The disease is caused by mutations in EPM2A, encoding laforin, or EPM2B, encoding malin. Both proteins have functions that affect glycogen metabolism, including glycogen dephosphorylation by laforin and ubiquitination of enzymes involved in glycogen metabolism by malin. Lack of function of laforin or malin results in the accumulation of polyglucosan that forms Lafora bodies in the central nervous system and other tissues. Enzyme replacement therapy through intravenous administration of alglucosidase alfa (Myozyme®) has shown beneficial effects removing polyglucosan aggregates in Pompe disease. We evaluated the effectiveness of intracerebroventricular administration of alglucosidase alfa in the Epm2a-/- knock-out and Epm2aR240X knock-in mouse models of Lafora disease. Seven days after a single intracerebroventricular injection of alglucosidase alfa in 12-month-old Epm2a-/- and Epm2aR240X mice, the number of Lafora bodies was not reduced. Additionally, a prolonged infusion of alglucosidase alfa for 2 or 4 weeks in 6- and 9-month-old Epm2a-/- mice did not result in a reduction in the number of LBs or the amount of glycogen in the brain. These findings hold particular significance in guiding a rational approach to the utilization of novel therapies in Lafora disease.

Keywords

Alglucosidase alfaAlpha-glucosidasesAnimalsGaa protein, humanGlycogenGlycogen storage diseaseIntracerebroventricular treatmentLafora bodyLafora diseaseMiceMice, knockoutProtein tyrosine phosphatases, non-receptorUbiquitin-protein ligases

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal EPILEPSY RESEARCH 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, 2024 there are still no calculated indicators, but in 2023, it was in position , thus managing to position itself as a Q2 (Segundo Cuartil), in the category Neurology (Clinical). Notably, the journal is positioned en el Cuartil Q3 for the agency WoS (JCR) in the category Clinical Neurology.

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 2025-10-22:

  • 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: 6.
  • 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: 6 (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: 0.5.
  • The number of mentions on the social network X (formerly Twitter): 2 (Altmetric).

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: United States of America.

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 (Zafra-Puerta L) and Last Author (SERRATOSA FERNANDEZ, JOSE MARIA).