期刊
NATURE REVIEWS NEUROSCIENCE
卷 10, 期 8, 页码 597-609出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrn2670
关键词
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资金
- US National Institute of Neurological Disorders and Stroke
- Families of SMA
- Fight SMA
- SMA Foundation
- Madison, Matthew, Preston and Cade Katelyn funds
- SMA Angels
Many neurogenetic disorders are caused by the mutation of ubiquitously expressed genes. One such disorder, spinal muscular atrophy, is caused by loss or mutation of the survival motor neuron 1 gene (SMN1), leading to reduced SMN protein levels and a selective dysfunction of motor neurons. SMN, together with partner proteins, functions in the assembly of small nuclear ribonucleoproteins (snRNPs), which are important for pre-mRNA splicing. It has also been suggested that SMN might function in the assembly of other ribonucleoprotein complexes. Two hypotheses have been proposed to explain the molecular dysfunction that gives rise to spinal muscular atrophy (SMA) and its specificity to a particular group of neurons. The first hypothesis states that the loss of SMN's well-known function in snRNP assembly causes an alteration in the splicing of a specific gene (or genes). The second hypothesis proposes that SMN is crucial for the transport of mRNA in neurons and that disruption of this function results in SMA.
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