The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
Open accessAbstract
The motor neuron disease spinal muscular atrophy (SMA) causes profound muscle weakness that most often leads to early death. At autopsy, SMA is characterized by loss of motor neurons and muscle atrophy, but the initial cellular events that precipitate motor unit dysfunction and loss remain poorly characterized. Here, we examined the function and corresponding structure of neuromuscular junction (NMJ) synapses in a mouse model of severe SMA (hSMN2/delta7SMN/mSmn−/−). Surprisingly, most SMA NMJs remained innervated even late in the disease course; however they showed abnormal synaptic transmission. There was a two-fold reduction in the amplitudes of the evoked endplate currents (EPCs), but normal spontaneous miniature EPC (MEPC) amplitudes. These features in combination indicate reduced quantal content. SMA NMJs also demonstrated increased facilitation suggesting a reduced probability of vesicle release. By electron microscopy, we found a decreased density of synaptic vesicles that is likely to contribute to the reduced release probability. In addition to presynaptic defects, there were postsynaptic abnormalities. EPC and MEPC decay time constants were prolonged because of a slowed switch from the fetal acetylcholine receptor (AChR) γ-subunit to the adult ε-subunit. There was also reduced size of AChR clusters and small myofibers, which expressed an immature pattern of myosin heavy chains. Together these results indicate that impaired synaptic vesicle release at NMJs in severe SMA is likely to contribute to failed postnatal maturation of motor units and muscle weakness.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Short-Term Synaptic Plasticity
Zucker, R. S., & Regehr, W. G. (2002) · Annual Review of Physiology · doi:10.1146/annurev.physiol.64.092501.114547 · Cited by 5,068
Identification and characterization of a spinal muscular atrophy-determining gene
Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90460-3 · Cited by 3,990
Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man
Fischer, L. R., Culver, D. G., Tennant, P., Davis, A. A., Wang, M., Castellano-Sanchez, A., Khan, J., Polak, M. A., & Glass, J. D. (2004) · Experimental Neurology · doi:10.1016/j.expneurol.2003.10.004 · Cited by 1,357
Correlation between severity and SMN protein level in spinal muscular atrophy
Lefebvre, S., Burlet, P., Liu, Q., Bertrandy, S., Clermont, O., Munnich, A., Dreyfuss, G., & Melki, J. (1997) · Nature Genetics · doi:10.1038/ng0797-265 · Cited by 1,100
Induction, assembly, maturation and maintenance of a postsynaptic apparatus
Sanes, J. R., & Lichtman, J. W. (2001) · Nature Reviews Neuroscience · doi:10.1038/35097557 · Cited by 1,025
An adaptive coding model of neural function in prefrontal cortex
Duncan, J. (2001) · Nature Reviews Neuroscience · doi:10.1038/35097575 · Cited by 874
Actin in action: the interplay between the actin cytoskeleton and synaptic efficacy.
Cingolani, L. A., & Goda, Y. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2373 · Cited by 831
An adaptive coding model of neural function in prefrontal cortex
Duncan, J. (2001) · UCL Discovery (University College London) · Cited by 738
Monani, U. R. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.3.333 · Cited by 729
Frey, D., Schneider, C., Xu, L., Borg, J., Spooren, W., & Caroni, P. (2000) · The Journal of Neuroscience · doi:10.1523/jneurosci.20-07-02534.2000 · Cited by 687
Cited by
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Burghes, A. H. M., & Beattie, C. E. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2670 · Cited by 723
Foust, K. D., Wang, X., McGovern, V. L., Braun, L., Bevan, A. K., Haidet, A. M., Le, T. T., Morales, P. R., Rich, M. M., Burghes, A. H. M., et al. (2010) · Nature Biotechnology · doi:10.1038/nbt.1610 · Cited by 688
Self-citationRetractedHubers, L., Valderrama-Carvajal, H., Laframboise, J., Timbers, J., Sanchez, G., & Côté, J. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddq500 · Cited by 138
Yoshida, M., Kitaoka, S., Egawa, N., Yamane, M., Ikeda, R., Tsukita, K., Amano, N., Watanabe, A., Morimoto, M., Takahashi, J., et al. (2015) · Stem Cell Reports · doi:10.1016/j.stemcr.2015.02.010 · Cited by 102
Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease
Todd, A. G., McElroy, J. A., Grange, R. W., Fuller, D. D., Walter, G. A., Byrne, B. J., & Falk, D. J. (2015) · Annals of Neurology · doi:10.1002/ana.24433 · Cited by 51
Metadata
- Authors
- Kong, L., Wang, X., Choe, D. W., Polley, M., Burnett, B. G., Bosch-Marcé, M., Griffin, J. W., Rich, M. M., & Sumner, C. J.
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2009-01-21
- Volume
- 29
- Issue
- 3
- Pages
- 842-851
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- OpenAlex
- W1996417439
- Cited by
- 398
- References
- 47
- FWCI
- 15.91
- Type
- journal article
- Language
- en
- Open access
- hybrid
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice. https://app.cochat.ai/papers/10.1523/jneurosci.4434-08.2009
- The paper
- Kong, L., Wang, X., Choe, D. W., Polley, M., Burnett, B. G., Bosch-Marcé, M., Griffin, J. W., Rich, M. M., & Sumner, C. J. (2009). Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice. The Journal of Neuroscience. https://doi.org/10.1523/jneurosci.4434-08.2009
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
