ArticleScience translational medicine2012
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy.
Article in Science translational medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 119 papers, 1 of them a synthesis that pooled it.
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Who cites it
119 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review.JAMA neurology · 2016Pooled it
- IndividualLife science alliance · 2026Article
- Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids.Nature communications · 2025Article
- Novel Translational Concept: Axon-to-Muscle Exosomal Signaling as an Emerging Therapeutic Target in Spinal Muscular Atrophy.Biomedicines · 2025Review
- ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.Cell reports · 2025Article
- Current Applications of Human Pluripotent Stem Cells in Neuroscience Research and Cell Transplantation Therapy for Neurological Disorders.Stem cell reviews and reports · 2025Review
- Cerebral organoid research for pediatric patients with neurological disorders.Clinical and experimental pediatrics · 2025Article
- Riboflavin transporter deficiency:Frontiers in cellular neuroscience · 2025Article
- Targeting STMN2 for neuroprotection and neuromuscular recovery in Spinal Muscular Atrophy: evidence from in vitro and in vivo SMA models.Cellular and molecular life sciences : CMLS · 2024Article
- Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation.Cell reports. Medicine · 2024Article
- Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neuronsCell death discovery · 2024Article
- Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.Frontiers in cellular neuroscience · 2024Article
- Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.Cellular and molecular life sciences : CMLS · 2023Article
- Unlocking the Complexity of Neuromuscular Diseases: Insights from Human Pluripotent Stem Cell-Derived Neuromuscular Junctions.International journal of molecular sciences · 2023Review
- Spinal Cord Organoids to Study Motor Neuron Development and Disease.Life (Basel, Switzerland) · 2023Review
- Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.Human molecular genetics · 2023Article
- NSC Physiological Features in Spinal Muscular Atrophy: SMN Deficiency Effects on Neurogenesis.International journal of molecular sciences · 2022Review
- NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression.Neural regeneration research · 2022Article
- Single-cell RNA sequencing reveals dysregulation of spinal cord cell types in a severe spinal muscular atrophy mouse model.PLoS genetics · 2022Article
- Review
59 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
Spinal muscular atrophy (SMA) is among the most common genetic neurological diseases that cause infant mortality. Induced pluripotent stem cells (iPSCs) generated from skin fibroblasts from SMA patients and genetically corrected have been proposed to be useful for autologous cell therapy. We generated iPSCs from SMA patients (SMA-iPSCs) using nonviral, nonintegrating episomal vectors and used a targeted gene correction approach based on single-stranded oligonucleotides to convert the survival motor neuron 2 (SMN2) gene into an SMN1-like gene. Corrected iPSC lines contained no exogenous sequences. Motor neurons formed by differentiation of uncorrected SMA-iPSCs reproduced disease-specific features. These features were ameliorated in motor neurons derived from genetically corrected SMA-iPSCs. The different gene splicing profile in SMA-iPSC motor neurons was rescued after genetic correction. The transplantation of corrected motor neurons derived from SMA-iPSCs into an SMA mouse model extended the life span of the animals and improved the disease phenotype. These results suggest that generating genetically corrected SMA-iPSCs and differentiating them into motor neurons may provide a source of motor neurons for therapeutic transplantation for SMA.
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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.