Survival of Motor Neuron 1 Protein
"Survival of Motor Neuron 1 Protein" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An SMN complex protein that contains a TUDOR DOMAIN and is essential for the function of the SMN protein complex. In humans, the protein is encoded by a single gene found near the inversion TELOMERE of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
| Descriptor ID |
D055533
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| MeSH Number(s) |
D12.776.157.725.875.500 D12.776.580.922.500 D12.776.664.962.875.500
|
| Concept/Terms |
Survival of Motor Neuron 1 Protein- Survival of Motor Neuron 1 Protein
- SMN Protein (Spinal Muscular Atrophy)
- Survival of Motor Neuron 1, Telomeric Protein
- Survival Motor Neuron Protein 1
|
Below are MeSH descriptors whose meaning is more general than "Survival of Motor Neuron 1 Protein".
Below are MeSH descriptors whose meaning is more specific than "Survival of Motor Neuron 1 Protein".
This graph shows the total number of publications written about "Survival of Motor Neuron 1 Protein" by people in this website by year, and whether "Survival of Motor Neuron 1 Protein" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 0 | 1 | 1 |
| 2007 | 0 | 1 | 1 |
| 2008 | 0 | 1 | 1 |
| 2009 | 0 | 2 | 2 |
| 2011 | 0 | 2 | 2 |
| 2014 | 0 | 1 | 1 |
| 2015 | 0 | 2 | 2 |
| 2017 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
| 2020 | 1 | 1 | 2 |
| 2021 | 2 | 0 | 2 |
| 2023 | 0 | 1 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Survival of Motor Neuron 1 Protein" by people in Profiles.
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Matesanz SE, Brigatti KW, Young M, Yum SW, Strauss KA. Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy. Ann Clin Transl Neurol. 2024 07; 11(7):1868-1878.
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Lumpkin CJ, Harris AW, Connell AJ, Kirk RW, Whiting JA, Saieva L, Pellizzoni L, Burghes AHM, Butchbach MER. Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy. Sci Rep. 2023 06 26; 13(1):10374.
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Butchbach MER. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. Int J Mol Sci. 2021 Jul 23; 22(15).
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Stabley DL, Holbrook J, Scavina M, Crawford TO, Swoboda KJ, Robbins KM, Butchbach MER. Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics. 2021 03; 22(1):53-64.
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Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P. Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. Sci Rep. 2020 11 16; 10(1):19892.
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Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ, Bentley DR, Butchbach MER, Raymond FL, Eberle MA. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med. 2020 05; 22(5):945-953.
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Carson VJ, Puffenberger EG, Bowser LE, Brigatti KW, Young M, Korulczyk D, Rodrigues AS, Loeven KK, Strauss KA. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PLoS One. 2018; 13(9):e0202104.
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Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER. Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. Neuromuscul Disord. 2017 May; 27(5):439-446.
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Mammo D, Yonekawa Y, Thomas BJ, Shah AR, Abbey AM, Trese MT, Drenser KA, Capone A. Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. Eur J Ophthalmol. 2015 Oct 21; 25(6):e116-8.
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Harris AW, Butchbach ME. The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy. Neuromuscul Disord. 2015 Sep; 25(9):699-705.