ArticlePloS one2018
A new biomarker candidate for spinal muscular atrophy: Identification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed.
- Electrochemical Detection of SMN Protein by Immunosensors: The Role of Surface Modifications in Screen-Printed Carbon Electrodes.Sensors (Basel, Switzerland) · 2026Article
- Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development.Orphanet journal of rare diseases · 2025Article
- Spinal Muscular Atrophy: Current Medications and Re-purposed Drugs.Cellular and molecular neurobiology · 2024Review
- Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers.Neurology and therapy · 2024Article
- Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy.Journal of clinical medicine · 2023Review
- Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children.Annals of clinical and translational neurology · 2021Article
- Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review.International journal of molecular sciences · 2021Review
- Thirty years of translational research in Mobility Medicine: Collection of abstracts of the 2020 Padua Muscle Days.European journal of translational myology · 2020Article
- Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy.Neurology · 2020Article
- Novel challenges in spinal muscular atrophy - How to screen and whom to treat?Annals of clinical and translational neurology · 2019Review
- Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy.Frontiers in neurology · 2019Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by insufficiency of functional survival motor neuron (SMN) protein. Several clinical trials have been conducted with the aim of upregulating the expression of the SMN protein in SMA patients. In order to evaluate the efficiency of these SMN-targeted approaches, it has become necessary to verify SMN protein levels in the cells of SMA patients. Accordingly, we have developed a method allowing the evaluation of the functional SMN protein with < 1.5 mL of peripheral blood using imaging flow cytometry. The expression of SMN protein in CD3+, CD19+, and CD33++ cells obtained from SMA patients, was significantly reduced compared with that in cells from control subjects. In spot analysis of CD33++ cells, the intensities of SMN spots were significantly reduced in SMA subjects, when compared with that in controls. Therefore, SMN spots implied the presence of functional SMN protein in the cell nucleus. To our knowledge, our results are the first to demonstrate the presence of functional SMN protein in freshly isolated peripheral blood cells. We anticipate that SMN spot analysis will become the primary endpoint assay for the evaluation and monitoring of therapeutic intervention, with SMN serving as a reliable biomarker of therapeutic efficacy in SMA patients.
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