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
|
| 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".
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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 |
|---|
| 1996 | 0 | 1 | 1 |
| 1997 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2014 | 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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Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates. Mol Ther. 2015 Mar; 23(3):477-87.
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A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. Eur J Hum Genet. 2011 Oct; 19(10):1045-51.
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A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet. 1997 Feb; 6(2):229-36.
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Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet. 1996 Mar; 5(3):359-65.