ReviewCurrent opinion in neurology2016
Advances in modeling and treating spinal muscular atrophy.
Review in Current opinion in neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed.
- Mitigating aberrant Cdk5 activation alleviates mitochondrial defects and motor neuron disease symptoms in spinal muscular atrophy.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Motor defects in a Drosophila model for spinal muscular atrophy result from SMN depletion during early neurogenesis.PLoS genetics · 2022Article
- Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Current diagnosis and management of rare pediatric diseases in China.Intractable & rare diseases research · 2021Review
- Sumoylation regulates the assembly and activity of the SMN complex.Nature communications · 2021Article
- 2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia.Frontiers in pediatrics · 2021Article
- Minor snRNA gene delivery improves the loss of proprioceptive synapses on SMA motor neurons.JCI insight · 2020Article
- R-Roscovitine Improves Motoneuron Function in Mouse Models for Spinal Muscular Atrophy.iScience · 2020Article
- A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation.NPJ Regenerative medicine · 2020Article
- The role of survival motor neuron protein (SMN) in protein homeostasis.Cellular and molecular life sciences : CMLS · 2018Review
- Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy.Genes & development · 2018Article
- Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy.Cell reports · 2017Article
- Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy.Gene therapy · 2017Review
- Splicing arrays reveal novel RBM10 targets, including SMN2 pre-mRNA.BMC molecular biology · 2017Article
- Diverse role of survival motor neuron protein.Biochimica et biophysica acta. Gene regulatory mechanisms · 2017Review
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
purpose of reviewSpinal muscular atrophy (SMA) is an inherited childhood neurodegenerative disorder caused by ubiquitous deficiency of the survival motor neuron (SMN) protein - the hallmarks of which are the selective loss of motor neurons and skeletal muscle atrophy. Here, we highlight recent progress in the understanding of SMA pathology and in the development of therapeutic approaches for its treatment. RECENT
findingsPhenotypic characterization of mouse models of the disease, combined with analysis of SMN restoration or depletion in a spatially and temporally controlled manner, has yielded key insights into the normal requirement of SMN and SMA pathophysiology. Increasing evidence indicates a higher demand for SMN during neuromuscular development and extends the pathogenic effects of SMN deficiency beyond motor neurons to include additional cells both within and outside the nervous system. These findings have been paralleled by preclinical development of powerful approaches for increasing SMN expression through gene therapy or splicing modulation that are now in human trials. SUMMARY: Along with the availability of SMN-upregulating drugs, identification of the specific cell types in which SMN deficiency induces the disease and delineation of the window of opportunity for effective treatment are key advances in the ongoing path to SMA therapy.
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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.