ReviewAssay and drug development technologies2014
Assays for the identification and prioritization of drug candidates for spinal muscular atrophy.
Review in Assay and drug development technologies, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
19 citing papers in PubMed, 37 citations in OpenAlex.
- Comparative Analysis ofBiomedicines · 2026Article
- Establishment of Multiplex Digital PCR Assay for Detection of Four Porcine Enteric Coronaviruses.International journal of molecular sciences · 2025Article
- The effect of coadministration of D156844 and AR42 (REC-2282) on the survival and motor phenotype of mice with spinal muscular atrophy.Scientific reports · 2025Article
- Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers onMolecular pharmacology · 2022Article
- Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review.International journal of molecular sciences · 2021Review
- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- Direct Medical Costs of Spinal Muscular Atrophy in the Catalonia Region: A Population-Based Analysis.Clinical drug investigation · 2020Article
- AAV9 Vector: a Novel modality in gene therapy for spinal muscular atrophy.Gene therapy · 2019Review
- Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology.Life science alliance · 2019Article
- Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy.Advances in neurobiology · 2018Review
- Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.Neuromuscular disorders : NMD · 2017Article
- Studying human disease using human neurons.Brain research · 2017Review
- The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells.PloS one · 2017Article
- Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.Frontiers in molecular biosciences · 2016Review
- Chronic Treatment with the AMPK Agonist AICAR Prevents Skeletal Muscle Pathology but Fails to Improve Clinical Outcome in a Mouse Model of Severe Spinal Muscular Atrophy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2016Article
- The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy.Neuromuscular disorders : NMD · 2015Article
- Spinal muscular atrophy--recent therapeutic advances for an old challenge.Nature reviews. Neurology · 2015Review
- Interview with Jill Jarecki, PhD.Assay and drug development technologies · 2014Article
- Collaboration for rare disease drug discovery research.F1000Research · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder resulting in degeneration of α-motor neurons of the anterior horn and proximal muscle weakness. It is the leading cause of genetic mortality in children younger than 2 years. It affects ∼1 in 11,000 live births. In 95% of cases, SMA is caused by homozygous deletion of the SMN1 gene. In addition, all patients possess at least one copy of an almost identical gene called SMN2. A single point mutation in exon 7 of the SMN2 gene results in the production of low levels of full-length survival of motor neuron (SMN) protein at amounts insufficient to compensate for the loss of the SMN1 gene. Although no drug treatments are available for SMA, a number of drug discovery and development programs are ongoing, with several currently in clinical trials. This review describes the assays used to identify candidate drugs for SMA that modulate SMN2 gene expression by various means. Specifically, it discusses the use of high-throughput screening to identify candidate molecules from primary screens, as well as the technical aspects of a number of widely used secondary assays to assess SMN messenger ribonucleic acid (mRNA) and protein expression, localization, and function. Finally, it describes the process of iterative drug optimization utilized during preclinical SMA drug development to identify clinical candidates for testing in human clinical trials.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.