mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node

Abstract Mechanistic target of rapamycin (mTOR) is a highly conserved serine/threonine kinase that regulates key cellular processes including cell growth, autophagy and metabolism. Hyperactivation of the mTOR pathway causes a group of rare and ultrarare genetic diseases. mTOR pathway diseases have d...

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Main Authors: Laura Mantoan Ritter, Nicholas M. P. Annear, Emma L. Baple, Leila Y. Ben-Chaabane, Istvan Bodi, Lauren Brosson, Jill E. Cadwgan, Bryn Coslett, Andrew H. Crosby, D. Mark Davies, Nicola Daykin, Stefanie Dedeurwaerdere, Christina Dühring Fenger, Elaine A. Dunlop, Frances V. Elmslie, Marie Girodengo, Sophie Hambleton, Anna C. Jansen, Simon R. Johnson, Kelly C. Kearley, John C. Kingswood, Liisi Laaniste, Katherine Lachlan, Andrew Latchford, Ralitsa R. Madsen, Sahar Mansour, Simeon R. Mihaylov, Louwai Muhammed, Claire Oliver, Tom Pepper, Lettie E. Rawlins, Ina Schim van der Loeff, Ata Siddiqui, Pooja Takhar, Katrina Tatton-Brown, Andrew R. Tee, Priyanka Tibarewal, Charlotte Tye, Sila K. Ultanir, Bart Vanhaesebroeck, Benjamin Zare, Deb K. Pal, Joseph M. Bateman
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
mTOR
Rare diseases
Tuberous sclerosis complex
PTEN
PI3K
AKT
Online Access:https://doi.org/10.1186/s13023-025-03740-1
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