Results 31 to 40 of about 18,558 (165)

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

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

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

Regulation of colonic epithelial cell homeostasis by mTORC1

Scientific Reports, 2020
Cell signaling important for homeostatic regulation of colonic epithelial cells (CECs) remains poorly understood. Mammalian target of rapamycin complex 1 (mTORC1), a protein complex that contains the serine-threonine kinase mTOR, mediates signaling that ...
Takenori Kotani, Jajar Setiawan, Tasuku Konno, Noriko Ihara, Saki Okamoto, Yasuyuki Saito, Yoji Murata, Tetsuo Noda, Takashi Matozaki   +8 more
doaj   +1 more source

Ablation of TSC2 enhances insulin secretion by increasing the number of mitochondria through activation of mTORC1. [PDF]

PLoS ONE, 2011
AIM:We previously found that chronic tuberous sclerosis protein 2 (TSC2) deletion induces activation of mammalian target of rapamycin Complex 1 (mTORC1) and leads to hypertrophy of pancreatic beta cells from pancreatic beta cell-specific TSC2 knockout ...
Maki Koyanagi, Shun-ichiro Asahara, Tomokazu Matsuda, Naoko Hashimoto, Yutaka Shigeyama, Yuki Shibutani, Ayumi Kanno, Megumi Fuchita, Tomoko Mikami, Tetsutya Hosooka, Hiroshi Inoue, Michihiro Matsumoto, Masato Koike, Yasuo Uchiyama, Tetsuo Noda, Susumu Seino, Masato Kasuga, Yoshiaki Kido   +17 more
doaj   +1 more source

Elastomeric 3D‐Printed Microenvironments Enable Nanonewton Force Measurements in Healthy and Diseased Human Pluripotent Stem Cell‐Derived Neuroepithelial Cells

Advanced Materials, EarlyView.
We present elastomeric three‐dimensional (3D) microstructures fabricated via two‐photon polymerization (2PP) and post‐processed through wet etching, for quantifying nanonewton (nN)‐scale forces applied by healthy and diseased neural cells. The mechanically characterized free‐standing beam architectures enable measurement of traction forces of ...
Pieter F. J. van Altena, Lucia Castillo Ransanz, Ruben H. Guis, Giulia Bergamaschi, Nanne J. Paauw, Urs Staufer, Vivi M. Heine, Angelo Accardo   +7 more
wiley   +1 more source

Single serine on TSC2 exerts biased control over mTORC1 activation mediated by ERK1/2 but not Akt

Life Science Alliance, 2022
Both ERK1/2 and Akt kinases activate mTORC1, but only the former is bidirectionally regulated by the status of serine S1364 on TSC2 that confers input-selective mTORC1 amplification or attenuation. Tuberous sclerosis complex-2 (TSC2) negatively regulates
Brittany L Dunkerly-Eyring, Shi Pan, Miguel Pinilla-Vera, Desirae McKoy, Sumita Mishra, Maria I Grajeda Martinez, Christian U Oeing, Mark J Ranek, David A Kass   +8 more
doaj   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source