Spinal muscular atrophy molecular biology: Difference between revisions
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New page: {{Spinal Muscular Atrophy}} '''Editor-In-Chief:''' {{CMG}},Priyamvada Singh, MBBS __NOTOC__ {{Editor Help}} SMN (survival motor neuron) gene produces SMN protein. This pr... |
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{{Spinal Muscular Atrophy}} | {{Spinal Muscular Atrophy}} | ||
'''Editors-in-Chief:''' [[C. Michael Gibson, M.S., M.D.]]; [[Priyamvada Singh]], [[MBBS]] | |||
==Overview== | |||
Spinal muscular atrophy is caused by the mutation in SMN1 ([[survival motor neuron 1]])gene. SMN 1 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- | |||
* Components of '''spliceosome''', involved in [[pre-m-RNA]] splicing (transcription) <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> | |||
* | |||
* 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> | * 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> | ||
* | * 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 14:37, 28 January 2012
Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS
Overview
Spinal muscular atrophy is caused by the mutation in SMN1 (survival motor neuron 1)gene. SMN 1 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-
- Components of spliceosome, involved in pre-m-RNA splicing (transcription) [1]
- Involved in actin cytoskeletal dynamics (motor axon pathfinding)[2]
- 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.