RNA-Binding Proteins and the Complex Pathophysiology of ALSopen access
- Kim, Wanil; Kim, Do-Yeon; Lee, Kyung-Ha
- Issue Date
- ALS; RNA-binding protein; membrane-less organelles
- INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v.22, no.5
- Journal Title
- INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Genetic analyses of patients with amyotrophic lateral sclerosis (ALS) have identified disease-causing mutations and accelerated the unveiling of complex molecular pathogenic mechanisms, which may be important for understanding the disease and developing therapeutic strategies. Many disease-related genes encode RNA-binding proteins, and most of the disease-causing RNA or proteins encoded by these genes form aggregates and disrupt cellular function related to RNA metabolism. Disease-related RNA or proteins interact or sequester other RNA-binding proteins. Eventually, many disease-causing mutations lead to the dysregulation of nucleocytoplasmic shuttling, the dysfunction of stress granules, and the altered dynamic function of the nucleolus as well as other membrane-less organelles. As RNA-binding proteins are usually components of several RNA-binding protein complexes that have other roles, the dysregulation of RNA-binding proteins tends to cause diverse forms of cellular dysfunction. Therefore, understanding the role of RNA-binding proteins will help elucidate the complex pathophysiology of ALS. Here, we summarize the current knowledge regarding the function of disease-associated RNA-binding proteins and their role in the dysfunction of membrane-less organelles.
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- College of Medicine > Department of Medicine > Journal Articles
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