The role of RNP biogenesis in spinal muscular atrophy
| Autor: | Utz Fischer, Ashwin Chari, Elham Paknia |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
RNA-Binding Proteins
SMN Complex Proteins Cell Biology Spinal muscular atrophy Anatomy Disease Biology Motor neuron SMA medicine.disease Phenotype snRNP Core Proteins Muscular Atrophy Spinal medicine.anatomical_structure Ribonucleoproteins Regulatory sequence medicine Humans snRNP Neuroscience Biogenesis |
| Zdroj: | Current opinion in cell biology. 21(3) |
| ISSN: | 1879-0410 |
| Popis: | Mutations that affect pre-mRNA processing are the cause for many genetic diseases. Most such mutations target cis-acting regulatory sequences in a given transcript, thus preventing its proper maturation. Only recently however, mutations in trans-acting factors involved in pre-mRNA processing have likewise been linked to disease. One prominent example is spinal muscular atrophy (SMA), a monogenic, neuromuscular disorder caused by reduced levels of functional survival motor neuron (SMN) protein. This ubiquitous factor is part of a complex that mediates the formation of spliceosomal snRNPs. The detailed biochemical investigation of SMN under normal conditions and in SMA has provided clues how mutations in factors with general functions elicit tissue-specific phenotypes. |
| Databáze: | OpenAIRE |
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