Abstract
Spinal muscular atrophy is caused by mutations in the SMN1 gene, the product of which is part of a multi-component complex involved in the assembly of small nuclear ribonucleoproteins. A recent study indicates that SMN may also play a role in pre-mRNA splicing.
Publication types
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Cyclic AMP Response Element-Binding Protein
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Humans
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Muscular Atrophy, Spinal / genetics*
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Nerve Tissue Proteins / genetics*
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Nerve Tissue Proteins / metabolism
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RNA Splicing*
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RNA, Messenger / genetics
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RNA-Binding Proteins
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SMN Complex Proteins
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Survival of Motor Neuron 1 Protein
Substances
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Cyclic AMP Response Element-Binding Protein
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Nerve Tissue Proteins
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RNA, Messenger
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RNA-Binding Proteins
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SMN Complex Proteins
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SMN1 protein, human
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Survival of Motor Neuron 1 Protein