Spinal Muscular atrophy Molecular Biology: Difference between revisions
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SMN ([[survival motor neuron]]) gene produces SMN protein. This protein is ubiquitously found in all cells (located in both the cytoplasm and in the nucleus). | |||
The main function that is found to be associated with them are | |||
* They are components of | The main function that is found to be associated with them are- | ||
* Involved in '''[[actin cytoskeletal]]''' dynamics ( | * They are components of '''spliceosome''', involved in [[pre-m-RNA]] splicing <ref name="pmid17761654">{{cite journal| author=Kolb SJ, Battle DJ, Dreyfuss G| title=Molecular functions of the SMN complex. | journal=J Child Neurol | year= 2007 | volume= 22 | issue= 8 | pages= 990-4 | pmid=17761654 | doi=10.1177/0883073807305666 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17761654 }} </ref> | ||
* Appears to be involved in maintaining structural and physiological integrity of | * Involved in '''[[actin cytoskeletal]]''' dynamics (motor axon pathfinding)<ref name="pmid19497369">{{cite journal| author=Bowerman M, Anderson CL, Beauvais A, Boyl PP, Witke W, Kothary R| title=SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. | journal=Mol Cell Neurosci | year= 2009 | volume= 42 | issue= 1 | pages= 66-74 | pmid=19497369 | doi=10.1016/j.mcn.2009.05.009 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19497369 }} </ref> | ||
* Appears to be involved in maintaining structural and physiological integrity of '''neuromuscular junction''' <ref name="pmid19343312">{{cite journal| author=Rossoll W, Bassell GJ| title=Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. | journal=Results Probl Cell Differ | year= 2009 | volume= 48 | issue= | pages= 289-326 | pmid=19343312 | doi=10.1007/400_2009_4 | pmc= | url= }} </ref> | |||
==References== | ==References== | ||
Latest revision as of 16:12, 20 August 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
SMN (survival motor neuron) gene produces SMN protein. This protein is ubiquitously found in all cells (located in both the cytoplasm and in the nucleus).
The main function that is found to be associated with them are-
- They are components of spliceosome, involved in pre-m-RNA splicing [1]
- Involved in actin cytoskeletal dynamics (motor axon pathfinding)[2]
- Appears to be involved in maintaining structural and physiological integrity of neuromuscular junction [3]
References
- ↑ Kolb SJ, Battle DJ, Dreyfuss G (2007). "Molecular functions of the SMN complex". J Child Neurol. 22 (8): 990–4. doi:10.1177/0883073807305666. PMID 17761654.
- ↑ Bowerman M, Anderson CL, Beauvais A, Boyl PP, Witke W, Kothary R (2009). "SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis". Mol Cell Neurosci. 42 (1): 66–74. doi:10.1016/j.mcn.2009.05.009. PMID 19497369.
- ↑ Rossoll W, Bassell GJ (2009). "Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes". Results Probl Cell Differ. 48: 289–326. doi:10.1007/400_2009_4. PMID 19343312.