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- W2506449016 abstract "Abstract The mechanistic target of rapamycin (mTOR) lies at the center of an intricate metabolic signaling hub orchestrating growth, proliferation, and catabolic outcomes such as autophagy and cellular fate. As such, defective regulation in the upstream effectors of mTOR contributes to many pathological conditions including: metabolic diseases, neurological disorders, epilepsy, and autism. Herein the congenital disorders discussed relate directly or indirectly to signaling by the mTOR hub, with a particular emphasis on autophagy defects. Discussion points include a brief background on upstream mTOR signaling, including amino acid input on nutrient status, and downstream effects of these pathway inputs. In light of these mechanisms research studies related to mTOR, rapamycin use, and autophagy within the context of heritable disorders are summarized. Some of these disorders, such as tuberous sclerosis complex, have a strong association and a direct genetic link to the mTOR pathway as well as pertinent clinical trials underway. Others, such as the aminoacidopathy maple syrup urine disease are associated through pathognomonic, not through in vivo, research studies to date, but further research efforts could prove insightful." @default.
- W2506449016 created "2016-08-23" @default.
- W2506449016 creator A5010775138 @default.
- W2506449016 creator A5012748123 @default.
- W2506449016 creator A5090516534 @default.
- W2506449016 date "2016-01-01" @default.
- W2506449016 modified "2023-10-18" @default.
- W2506449016 title "mTOR, Autophagy, Aminoacidopathies, and Human Genetic Disorders" @default.
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