{rfName}
Ge

Indexed in

License and use

Citations

43

Altmetrics

Analysis of institutional authors

Herranz-Martín SAuthor

Share

Publications
>
Review

Gene therapy: A promising approach to treating spinal muscular atrophy

Publicated to:HUMAN GENE THERAPY. 25 (7): 575-586 - 2014-07-01 25(7), DOI: 10.1089/hum.2013.186

Authors: Mulcahy, Padraig J; Iremonger, Kayleigh; Karyka, Evangelia; Herranz-Martin, Saul; Shum, Ka-To; Van Tam, Janice Kal; Azzouz, Mimoun

Affiliations

Beckman Research Institute of City of Hope - Author
City Hope Natl Med Ctr, Beckman Res Inst, Dept Mol & Cellular Biol, Duarte, CA 91010 USA - Author
King Abdulaziz Univ, Fac Med, Jeddah 22252, Saudi Arabia - Author
King Abdulaziz University - Author
Univ Sheffield, Sheffield Inst Translat Neurosci, Dept Neurosci, Sheffield S10 2HQ, S Yorkshire, England - Author
University of Sheffield - Author
See more

Abstract

Spinal muscular atrophy (SMA) is a severe autosomal recessive disease caused by a genetic defect in the survival motor neuron 1 (SMN1) gene, which encodes SMN, a protein widely expressed in all eukaryotic cells. Depletion of the SMN protein causes muscle weakness and progressive loss of movement in SMA patients. The field of gene therapy has made major advances over the past decade, and gene delivery to the central nervous system (CNS) by in vivo or ex vivo techniques is a rapidly emerging field in neuroscience. Despite Parkinson's disease, Alzheimer's disease, and amyotrophic lateral sclerosis being among the most common neurodegenerative diseases in humans and attractive targets for treatment development, their multifactorial origin and complicated genetics make them less amenable to gene therapy. Monogenic disorders resulting from modifications in a single gene, such as SMA, prove more favorable and have been at the fore of this evolution of potential gene therapies, and results to date have been promising at least. With the estimated number of monogenic diseases standing in the thousands, elucidating a therapeutic target for one could have major implications for many more. Recent progress has brought about the commercialization of the first gene therapies for diseases, such as pancreatitis in the form of Glybera, with the potential for other monogenic disease therapies to follow suit. While much research has been carried out, there are many limiting factors that can halt or impede translation of therapies from the bench to the clinic. This review will look at both recent advances and encountered impediments in terms of SMA and endeavor to highlight the promising results that may be applicable to various associated diseases and also discuss the potential to overcome present limitations. © Copyright 2014, Mary Ann Liebert, Inc.

Keywords

Aav-vectorsAnimalsDisease severityExonic splicing enhancerGenetic diseases, inbornGenetic therapyHumansImmune-responsesLentiviral vectorsMessenger-rnaMouse modelMuscular atrophy, spinalMutationNeutralizing antibodiesSmn expressionSmn1 protein, humanSurvival of motor neuron 1 proteinViral vectors

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal HUMAN GENE THERAPY due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2014, it was in position 29/163, thus managing to position itself as a Q1 (Primer Cuartil), in the category Biotechnology & Applied Microbiology.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 1.88, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-17, the following number of citations:

  • WoS: 16
  • Scopus: 16
  • Europe PMC: 11
  • OpenCitations: 18

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 2025-06-17:

  • 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: 95.
  • 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: 95 (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: 9.5.
  • The number of mentions on the social network X (formerly Twitter): 1 (Altmetric).
  • The number of mentions in news outlets: 1 (Altmetric).

Leadership analysis of institutional authors

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