| | |  | | | | Record from Web of Science® | | | | | | |
| Dysregulation of the TSC-mTOR pathway in human disease |
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| Author(s): Inoki K, Corradetti MN, Guan KL |
| Source: NATURE GENETICS Volume: 37 Issue: 1 Pages: 19-24 Published: JAN 2005 |
| Times Cited: 250 References: 100 |
| Abstract: The mammalian target of rapamycin (mTOR) has a central role in the regulation of cell growth. mTOR receives input from multiple signaling pathways, including growth factors and nutrients, to stimulate protein synthesis by phosphorylating key translation regulators such as ribosomal S6 kinase and eukaryote initiation factor 4E binding protein 1. High levels of dysregulated mTOR activity are associated with several hamartoma syndromes, including tuberous sclerosis complex, the PTEN-related hamartoma syndromes and Peutz-Jeghers syndrome. These disorders are all caused by mutations in tumor-suppressor genes that negatively regulate mTOR. Here we discuss the emerging evidence for a functional relationship between the mTOR signaling pathway and several genetic diseases, and we present evidence supporting a model in which dysregulation of mTOR may be a common molecular basis, not only for hamartoma syndromes, but also for other cellular hypertrophic disorders. |
| Document Type: Review |
| Language: English |
| Reprint Address: Guan, KL (reprint author), Univ Michigan, Inst Life Sci, Ann Arbor, MI 48109 USA |
Addresses:
1. Univ Michigan, Inst Life Sci, Ann Arbor, MI 48109 USA
2. Univ Michigan, Dept Biol Chem, Ann Arbor, MI 48109 USA
3. Univ Michigan, Inst Gerontol, Ann Arbor, MI 48109 USA |
| Publisher: NATURE PUBLISHING GROUP, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 883FX |
| ISSN: 1061-4036 |
| DOI: 10.1038/ng1494 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |