Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy Article Swipe
Andrés López‐Cortés
,
Gabriela Echeverría‐Garcés
,
María José Ramos-Medina
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3390/biology11060894
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3390/biology11060894
The condition known as 5q spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN1 and SMN2 genes. It is one of the most common pediatric recessive genetic diseases, and it represents the most common cause of hereditary infant mortality. After decades of intensive basic and clinical research efforts, and improvements in the standard of care, successful therapeutic milestones have been developed, delaying the progression of 5q SMA and increasing patient survival. At the same time, promising data from early-stage clinical trials have indicated that additional therapeutic options are likely to emerge in the near future. Here, we provide updated information on the molecular underpinnings of SMA; we also provide an overview of the rapidly evolving therapeutic landscape for SMA, including SMN-targeted therapies, SMN-independent therapies, and combinational therapies that are likely to be key for the development of treatments that are effective across a patient’s lifespan.
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Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.3390/biology11060894
- https://www.mdpi.com/2079-7737/11/6/894/pdf?version=1654848445
- OA Status
- gold
- Cited By
- 14
- References
- 141
- Related Works
- 10
- OpenAlex ID
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All OpenAlex metadata
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https://doi.org/10.3390/biology11060894Digital Object Identifier
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Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular AtrophyWork title
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reviewOpenAlex work type
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enPrimary language
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2022Year of publication
- Publication date
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2022-06-10Full publication date if available
- Authors
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Andrés López‐Cortés, Gabriela Echeverría‐Garcés, María José Ramos-MedinaList of authors in order
- Landing page
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https://doi.org/10.3390/biology11060894Publisher landing page
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https://www.mdpi.com/2079-7737/11/6/894/pdf?version=1654848445Direct link to full text PDF
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goldOpen access status per OpenAlex
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https://www.mdpi.com/2079-7737/11/6/894/pdf?version=1654848445Direct OA link when available
- Concepts
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Biology, Spinal muscular atrophy, Pathogenesis, Atrophy, Bioinformatics, Computational biology, Genetics, Immunology, GeneTop concepts (fields/topics) attached by OpenAlex
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14Total citation count in OpenAlex
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2025: 4, 2024: 6, 2023: 3, 2022: 1Per-year citation counts (last 5 years)
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141Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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