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".
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 |
|---|
| 1996 | 0 | 1 | 1 |
| 1997 | 0 | 1 | 1 |
| 1999 | 0 | 1 | 1 |
| 2000 | 0 | 1 | 1 |
| 2009 | 1 | 0 | 1 |
| 2012 | 0 | 1 | 1 |
| 2013 | 0 | 1 | 1 |
| 2015 | 0 | 1 | 1 |
| 2017 | 2 | 0 | 2 |
| 2020 | 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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GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. Am J Med Genet A. 2020 05; 182(5):1167-1176.
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Discovery of a Small Molecule Probe That Post-Translationally Stabilizes the Survival Motor Neuron Protein for the Treatment of Spinal Muscular Atrophy. J Med Chem. 2017 06 08; 60(11):4594-4610.
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The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 08; 19(8):936-944.
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PRMT9 is a type II methyltransferase that methylates the splicing factor SAP145. Nat Commun. 2015 Mar 04; 6:6428.
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U1A regulates 3' processing of the survival motor neuron mRNA. J Biol Chem. 2014 Feb 07; 289(6):3703-12.
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Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. EMBO Mol Med. 2013 Jul; 5(7):1103-18.
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Identification of novel compounds that increase SMN protein levels using an improved SMN2 reporter cell assay. J Biomol Screen. 2012 Apr; 17(4):481-95.
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Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. Am J Med Genet A. 2009 Mar; 149A(3):515-8.
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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet. 2000 Feb 12; 9(3):333-9.
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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999 Jul; 8(7):1177-83.