Abstract：
:Spinal muscular atrophy is caused by deletions or mutations in the SMN1 gene that result in reduced expression of the SMN protein. The SMN protein is an essential molecular chaperone that is required for the biogenesis of multiple ribonucleoprotein (RNP) complexes including spliceosomal small nuclear RNPs (snRNPs). Reductions in SMN expression result in a reduced abundance of snRNPs and to downstream RNA splicing alterations. SMN is also present in axons and dendrites and appears to have important roles in the formation of neuronal mRNA-protein complexes during development or neuronal repair. Thus, SMA is an exemplar, selective motor neuron disorder that is caused by defects in fundamental RNA processing events. A detailed molecular understanding of how motor neurons fail, and why other neurons do not, in SMA will yield important principals about motor neuron maintenance and neuronal specificity in neurodegenerative diseases.
journal_name
Brain Resjournal_title
Brain researchauthors
Beattie CE,Kolb SJdoi
10.1016/j.brainres.2018.02.022subject
Has Abstractpub_date
2018-08-15 00:00:00pages
92-97issue
Pt Aeissn
0006-8993issn
1872-6240pii
S0006-8993(18)30086-6journal_volume
1693pub_type
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