Abstract |
Cell-specific RNA-binding proteins (RBPs) are involved in a variety of processes that are critical for appropriate protein expression (e.g., alternative splicing of messenger RNAs and translational control). Perturbation of the normal functions of RBPs has been implicated in a number of clinical disorders. Disease-related RBPs include the CELF proteins, which are believed to play roles in normal heart and skeletal muscle development and in the pathology of myotonic dystrophy; the Nova autoimmune antigens, which are neuron-specific proteins involved in the pathogenesis of the neurodegenerative syndrome paraneoplastic opsoclonus-myoclonus ataxia; and the alphaCP proteins, which were originally discovered by virtue of their connection to alpha thalassemia. These proteins are representative of a potentially large repertoire of cell-specific RBPs that, together, help to distinguish among the various cell types. Structure/function studies of these RBPs have begun to yield important insights into how they help to shape the protein expression programs unique to heart, skeletal muscle, brain, and other tissues.
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Authors | Kiran Musunuru |
Journal | Trends in cardiovascular medicine
(Trends Cardiovasc Med)
Vol. 13
Issue 5
Pg. 188-95
(Jul 2003)
ISSN: 1050-1738 [Print] United States |
PMID | 12837581
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Review)
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Chemical References |
- CELF Proteins
- CELF1 Protein
- CELF1 protein, human
- CELF3 protein, human
- RNA-Binding Proteins
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Topics |
- Alternative Splicing
(genetics)
- CELF Proteins
- CELF1 Protein
- Cardiovascular Diseases
(genetics)
- Humans
- Myotonic Dystrophy
(genetics)
- Paraneoplastic Syndromes, Nervous System
(genetics)
- RNA-Binding Proteins
(genetics)
- alpha-Thalassemia
(genetics)
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