Results 41 to 50 of about 36,256,275 (202)

Mechanisms of TSC-mediated control of synapse assembly and axon guidance. [PDF]

PLoS ONE, 2007
Tuberous sclerosis complex is a dominant genetic disorder produced by mutations in either of two tumor suppressor genes, TSC1 and TSC2; it is characterized by hamartomatous tumors, and is associated with severe neurological and behavioral disturbances ...
Sarah Knox, Hong Ge, Brian D Dimitroff, Yi Ren, Katie A Howe, Andrew M Arsham, Mathew C Easterday, Thomas P Neufeld, Michael B O'Connor, Scott B Selleck   +9 more
doaj   +1 more source

Differential response of skeletal muscles to mTORC1 signaling during atrophy and hypertrophy [PDF]

, 2013
BACKGROUND: Skeletal muscle mass is determined by the balance between protein synthesis and degradation. Mammalian target of rapamycin complex 1 (mTORC1) is a master regulator of protein translation and has been implicated in the control of muscle mass ...
Handschin, Christoph, Bentzinger, C. Florian, Guridi, Maitea, Castets, Perrine, Hall, Michael N, Tintignac, Lionel A., Hall, Michael N., Perrine Castets, Romanino, Klaas, Tintignac, Lionel, Rüegg, Markus A, Michael N Hall, Lin, Shuo, Markus A Rüegg, Bentzinger, C Florian, Christoph Handschin, Serge Summermatter, Summermatter, Serge, C Bentzinger, Klaas Romanino, Maitea Guridi, Shuo Lin, Rüegg, Markus A., Lionel A Tintignac   +23 more
core   +1 more source

Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation

Stem Cell Research
The tuberous sclerosis complex 1 (TSC1) gene encodes for the growth inhibitory protein, hamartin, and has been clinically implicated in tuberous sclerosis complex (TSC) and associated epilepsy.
Shiwen Weng, Lu Liu, Qian Ren, Qun Wang, Wei Shan   +4 more
doaj   +1 more source

Evidence of molecular links between PKR and mTOR signalling pathways in Aβ neurotoxicity: Role of p53, Redd1 and TSC2

Neurobiology of Disease, 2009
The control of translation is disturbed in Alzheimer's disease (AD). This study analysed the crosslink between the up regulation of double-stranded RNA-dependent-protein kinase (PKR) and the down regulation of mammalian target of rapamycin (mTOR ...
Milena Morel, Julien Couturier, Raymond Pontcharraud, Roger Gil, Bernard Fauconneau, Marc Paccalin, Guylène Page   +6 more
doaj   +1 more source

mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the Down-Regulation of Autophagy. [PDF]

PLoS ONE, 2016
Mammalian target of rapamycin complex 1 (mTORC1) is a key regulator of cell growth, proliferation and metabolism. mTORC1 regulates protein synthesis positively and autophagy negatively. Autophagy is a major system to manage bulk degradation and recycling
Manabu Taneike, Kazuhiko Nishida, Shigemiki Omiya, Elham Zarrinpashneh, Tomofumi Misaka, Rika Kitazume-Taneike, Ruth Austin, Minoru Takaoka, Osamu Yamaguchi, Michael J Gambello, Ajay M Shah, Kinya Otsu   +11 more
doaj   +1 more source

Tuberous Sclerosis Complex in Autism [PDF]

, 2013
Objective: To study the prevalence rate of tuberous sclerosis complex in autistic disorder. Methods: We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We
Shi, Xiao-Dong, Guo, Xin, Tu, Wen-Jun
core   +2 more sources

Therapeutics for Tuberous Sclerosis

, 2023
Tuberous Sclerosis Complex (TSC) is a disease characterized by abnormal hamartomas and benign neoplasms in multiple organs. The diagnosis is made by the presence of 2 major features, or 1 major feature accompanied by 2 minor features.
Daniel Lovasz; Amanda Henderson, MD
core  

FMRP S499 is phosphorylated independent of mTORC1-S6K1 activity.

PLoS ONE, 2014
Hyperactive mammalian target of rapamycin (mTOR) is associated with cognitive deficits in several neurological disorders including tuberous sclerosis complex (TSC). The phosphorylation of the mRNA-binding protein FMRP reportedly depends on mTOR complex 1
Christopher M Bartley, Rachel A O'Keefe, Angélique Bordey   +2 more
doaj   +1 more source

Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC). [PDF]

PLoS ONE, 2012
Tuberous sclerosis complex (TSC) is a human genetic disorder in which loss of either TSC1 or TSC2 leads to development of hamartoma lesions, which can progress and be life-threatening or fatal.
Neil Auricchio, Izabela Malinowska, Reuben Shaw, Brendan D Manning, David J Kwiatkowski   +4 more
doaj   +1 more source

Characterization of TOR complex 2 (TORC2) in "Saccharomyces cerevisiae" [PDF]

, 2004
The TOR proteins play a central role in the control of cell growth. TOR proteins are the founding members of the phosphatidylinositol-related kinase (PIKK) family of protein kinases. In S. cerevisiae there are two TOR proteins, TOR1 and TOR2.
Wullschleger, Stephan
core   +1 more source