Results 21 to 30 of about 25,279 (224)

mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus

Journal of Neurodevelopmental Disorders, 2021
Background Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum disorder (ASD), is caused by mutations of TSC1 or TSC2 , which lead to constitutive overactivation of mammalian target of rapamycin (mTOR).
T. Petrásek, I. Vojtěchová, Ondřej Klovrza, K. Tuckova, Č. Vejmola, Jakub Rak, A. Šuláková, Daniel Kaping, N. Bernhardt, P. D. de Vries, J. Otáhal, R. Waltereit   +11 more
semanticscholar   +1 more source

Interleukin-6 mediates PSAT1 expression and serine metabolism in TSC2-deficient cells

Proceedings of the National Academy of Sciences of the United States of America, 2021
Significance The tumor suppressor syndrome tuberous sclerosis complex (TSC) affects 1:10,000 live births. We discovered that the inflammatory cytokine Interleukin-6 (IL-6) promotes the proliferation and migration of TSC2-deficient cells in part through ...
Ji Wang, H. Filippakis, Thomas R. Hougard, H. Du, Chenyang Ye, Heng-Jia Liu, Long Zhang, Khadijah Hindi, Shefali Bagwe, Julie Nijmeh, J. Asara, W. Shi, S. El-Chemaly, E. Henske, H. Lam   +14 more
semanticscholar   +1 more source

Loss of myeloid Tsc2 predisposes to angiotensin II-induced aortic aneurysm formation in mice

Cell Death and Disease, 2022
Rationale Genetic studies have proved the involvement of Tuberous sclerosis complex subunit 2 (Tsc2) in aortic aneurysm. However, the exact role of macrophage Tsc2 in the vascular system remains unclear.
Xue Liu, Yan Liu, Rui-xue Yang, Xiang-jiu Ding, Er-shun Liang   +4 more
doaj   +1 more source

Tsc2 shapes olfactory bulb granule cell molecular and morphological characteristics

Frontiers in Molecular Neuroscience, 2022
Tuberous Sclerosis Complex (TSC) is a neurodevelopmental disorder caused by mutations that inactivate TSC1 or TSC2. Hamartin and tuberin are encoded by TSC1 and TSC2 which form a GTPase activating protein heteromer that inhibits the Rheb GTPase from ...
Victoria A. Riley, Jennie C. Holmberg, Aidan M. Sokolov, David M. Feliciano   +3 more
doaj   +1 more source

TSC2 Interacts with HDLBP/Vigilin and Regulates Stress Granule Formation

Molecular Cancer Research, 2021
Tuberous sclerosis complex (TSC) is caused by mutations of either the TSC1 or TSC2 tumor suppressor gene. TSC causes tumors of the brain, heart, kidney, skin and lymphangioleiomyomatosis (LAM).
Kosmas Kosmas, H. Filippakis, D. Khabibullin, Michal Turkiewicz, H. Lam, Jane J. Yu, N. Kedersha, P. Anderson, E. Henske   +8 more
semanticscholar   +1 more source

Presynaptic GABAB receptor–mediated network excitation in the medial prefrontal cortex of Tsc2+/- mice

Pflügers Archiv: European Journal of Physiology, 2021
The TSC1 and TSC2 tumor suppressor genes control the activity of mechanistic target of rapamycin (mTOR) pathway. Elevated activity of this pathway in Tsc2+/- mouse model leads to reduction of postsynaptic GABAB receptor–mediated inhibition and ...
Davide Bassetti, Heiko J. Luhmann, S. Kirischuk   +2 more
semanticscholar   +1 more source

Amino Acid-Mediated Intracellular Ca2+ Rise Modulates mTORC1 by Regulating the TSC2-Rheb Axis through Ca2+/Calmodulin

International Journal of Molecular Sciences, 2021
Mechanistic target of rapamycin complex 1 (mTORC1) is a master growth regulator by controlling protein synthesis and autophagy in response to environmental cues. Amino acids, especially leucine and arginine, are known to be important activators of mTORC1
Yuna Amemiya, Nao Nakamura, Nao Ikeda, R. Sugiyama, Chiaki Ishii, M. Maki, H. Shibata, Terunao Takahara   +7 more
semanticscholar   +1 more source

Targeting SPHK1/S1PR3-regulated S-1-P metabolic disorder triggers autophagic cell death in pulmonary lymphangiomyomatosis (LAM)

Cell Death and Disease, 2022
Lymphangioleiomyomatosis (LAM), a progressive pulmonary disease exclusively affecting females, is caused by defects or mutations in the coding gene tuberous sclerosis complex 1 (TSC1) or TSC2, causing the mammalian target of rapamycin complex 1 (mTORC1 ...
Fei Li, Yifan Zhang, Zhoujun Lin, Lizhong Yan, Qiao Liu, Yin Li, Xiaolin Pei, Ya Feng, Xiao Han, Juan Yang, Fangxu Zheng, Tianjiao Li, Yupeng Zhang, Zhenkun Fu, Di Shao, Jane Yu, Chenggang Li   +16 more
doaj   +1 more source

Phosphorylation and Functional Inactivation of TSC2 by Erk

Cell, 2005
Li Ma, Zhenbang Chen, Hediye Erdjument‐Bromage, Paul Tempst, Pier Paolo Pandolfi   +4 more
openalex   +2 more sources

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus

Biomedical Papers, 2017
Background: Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC.
Marek Godava, Hana Filipova, Lubomir Dubrava, Radek Vrtel, Kamila Michalkova, Maria Janikova, Lenka Bakaj-Zbrozkova, Jiri Navratil   +7 more
doaj   +1 more source