The DOI matches its Crossref record; 112 of the 114 references it cites were found in a registry or an index.
Spinal muscular atrophy—recent therapeutic advances for an old challenge
Abstract
In the past decade, improved understanding of spinal muscular atrophy (SMA) aetiopathogenesis has brought us to a historical turning point: we are at the verge of development of disease-modifying treatments for this hitherto incurable disease. The increasingly precise delineation of molecular targets within the survival of motor neuron (SMN) gene locus has led to the development of promising therapeutic strategies. These novel avenues in treatment for SMA include gene therapy, molecular therapy with antisense oligonucleotides, and small molecules that aim to increase expression of SMN protein. Stem cell studies of SMA have provided an in vitro model for SMA, and stem cell transplantation could be used as a complementary strategy with a potential to treat the symptomatic phases of the disease. Here, we provide an overview of established data and novel insights into SMA pathogenesis, including discussion of the crucial function of the SMN protein. Preclinical evidence and recent advances from ongoing clinical trials are thoroughly reviewed. The final remarks are dedicated to future clinical perspectives in this rapidly evolving field, with a broad discussion on the comparison between the outlined therapeutic approaches and the remaining open questions.
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“Recently, intrathecal ASO injection to human was successfully completed in the Phase I and II clinical trials (Faravelli et al., 2015).”
From microRNA-33 Regulates ApoE Lipidation and Amyloid-β Metabolism in the Brain (2015) · cites this paper as Faravelli et al., 2015
In the citing paper
“Both trials demonstrated that intrathecal ASO injection is safe and effective.”
From microRNA-33 Regulates ApoE Lipidation and Amyloid-β Metabolism in the Brain (2015) · cites this paper as Faravelli et al., 2015
In the citing paper
“In addition, intrathecal ASO injection to human was successfully carried out in the phase I and II clinical trials [143].”
From MicroRNAs in brain cholesterol metabolism and their implications for Alzheimer's disease (2016) · cites this paper as [143]
In the citing paper
“In both clinical trials, the intrathecal ASO injection was safe and effective.”
From MicroRNAs in brain cholesterol metabolism and their implications for Alzheimer's disease (2016) · cites this paper as [143]
In the citing paper
“In both clinical trials, the intrathecal ASO injection was safe and effective.”
From MicroRNAs in brain cholesterol metabolism and their implications for Alzheimer's disease (2016) · cites this paper as [143]
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1 retracted
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RetractedIdentification and characterization of a spinal muscular atrophy-determining gene
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Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes
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Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., Iannaccone, S. T., Kirschner, J., Kuntz, N. L., Saito, K., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1710504 · Cited by 1,433
Scotti, M. M., & Swanson, M. S. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.3 · Cited by 1,163
Non-coding RNAs as drug targets
Matsui, M., & Corey, D. R. (2016) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.117 · Cited by 1,042
Chemistry, mechanism and clinical status of antisense oligonucleotides and duplex RNAs
Shen, X., & Corey, D. R. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx1239 · Cited by 654
Diverse role of survival motor neuron protein
Singh, R. N., Howell, M. D., Ottesen, E. W., & Singh, N. N. (2017) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2016.12.008 · Cited by 325
Metadata
- Authors
- Faravelli, I., Nizzardo, M., Comi, G. P., & Corti, S.
- Affiliations
- University of Milan (IT)
- Corresponding author
- Corti, Stefania
- Venue
- Nature Reviews Neurology
- Published
- 2015-05-19
- Volume
- 11
- Issue
- 6
- Pages
- 351-359
- ISSN
- 1759-4758 (ISSN-L)
- 1759-4766
- OpenAlex
- W1518213415
- Cited by
- 138
- References
- 114
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 6 · 2023: 7 · 2022: 7 · 2021: 15 · 2020: 8 · 2019: 15 · 2018: 19 · 2017: 20 · 2016: 25 · 2015: 6
- FWCI
- 3.28
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- spinal muscular atrophy, SMN protein, disease-modifying therapy, gene therapy, antisense oligonucleotides, small molecules, stem cell transplantation, clinical trials
- MeSH terms
- Animals, Clinical Trials as Topic, Diagnosis, Differential, Humans, Motor Neurons, Muscular Atrophy, Spinal, Oligonucleotides, Antisense, SMN Complex Proteins
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