Results 1 to 10 of about 36,428 (236)

Molecular brakes regulating mTORC1 activation in skeletal muscle following synergist ablation [PDF]

, 2014
The goal of the current work was to profile positive (mTORC1 activation, autocrine/paracrine growth factors) and negative [AMPK, unfolded protein response (UPR)] pathways that might regulate overload-induced mTORC1 (mTOR complex 1) activation with the ...
Amy Patton, Andrew Philp, D. Lee Hamilton, Florini JR, Frey JW, Hamilton DL, Iain J. Gallagher, Keith Baar, Matthew G. MacKenzie, Mhairi C. Towler, R Foundation for Statistical Computing, Sue C. Bodine, Zick Y   +12 more
core   +5 more sources

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Tsc2 mutation induces renal tubular cell nonautonomous disease

Genes & Diseases, 2022
TSC renal cystic disease is poorly understood and has no approved treatment. In a new principal cell-targeted murine model of Tsc cystic disease, the renal cystic epithelium is mostly composed of type A intercalated cells with an intact Tsc2 gene confirmed by sequencing, although these cells exhibit a Tsc-mutant disease phenotype.
Prashant Kumar, Fahad Zadjali, Ying Yao, Daniel Johnson, Brian Siroky, Aristotelis Astrinidis, Peter Vogel, Kenneth W. Gross, John J. Bissler   +8 more
openaire   +3 more sources

Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes

Cell Reports, 2022
Summary: Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas. Despite a well-described monogenic etiology, the cellular pathogenesis
Adam Pietrobon, Julien Yockell-Lelièvre, Trevor A. Flood, William L. Stanford   +3 more
doaj   +1 more source

Genetically engineered human cortical spheroid models of tuberous sclerosis. [PDF]

, 2018
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of mechanistic target of rapamycin complex 1 signaling. Hallmark pathologies of TSC are
Bateup, Helen, Blair, John, Hockemeyer, Dirk   +2 more
core   +1 more source

AMPK in the central nervous system: physiological roles and pathological implications [PDF]

, 2016
5′ AMP-activated protein kinase (AMPK) is considered the master metabolic regulator in all eukaryotes, as it maintains cellular energy homeostasis in a variety of tissues, including the brain.
Fioramonti, Marco, Fracassi, Anna, Marangoni, Martina, Rosso, Pamela, Segatto, Marco, Siteni, Silvia, Taglietti, Valentina   +6 more
core   +1 more source

An Open‐Source Pipeline for Calcium Imaging and All‐Optical Physiology in Human Stem Cell‐Derived Neurons

Advanced Science, EarlyView.
This work introduces an open‐source all‐optical platform for functional phenotyping of human stem cell‐derived neurons. The system integrates optogenetics, calcium imaging, automated acquisition, and analysis to resolve single‐cell and network activity, enabling longitudinal measurements, disease modeling, and pharmacological screening in preclinical ...
Wardiya Afshar‐Saber, Federico M. Gasparoli, Ziqin Yang, Nicole A. Teaney, Rachel Hobson, Lahin Lalani, Gayathri Srinivasan, Dosh Whye, Ranit Karmakar, Elizabeth D. Buttermore, Kellen D. Winden, Cidi Chen, Mustafa Sahin   +12 more
wiley   +1 more source

Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex

Human Genomics, 2023
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder.
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda   +8 more
doaj   +1 more source

Legumain Restrains Granuloma Formation by Inhibiting mTORC1/STAT1‐Mediated M1 Macrophage Polarization in Sarcoidosis

Advanced Science, EarlyView.
Legumain (LGMN) is upregulated in macrophages during sarcoid‑like granuloma formation. Macrophage‑derived LGMN binds to integrin αvβ3 and suppresses mTORC1/STAT1 signaling to restrain M1 macrophage polarization. Intratracheal delivery of lipid nanoparticles carrying Lgmn plasmid DNA (pDNA) elevates LGMN expression and effectively attenuates pulmonary ...
Mengyuan Liu, Yueyin Han, Bingbing Xie, Lili Zhu, Wenxiu Xu, Yinzhen Han, Yue Liao, Shuwei Gao, Dingyuan Jiang, Jing Geng, Zhen Li, Yinan Hu, Huaping Dai   +12 more
wiley   +1 more source

Regulation of TSC2 by 14-3-3 Binding [PDF]

Journal of Biological Chemistry, 2002
Mutation in either the TSC1 or TSC2 tumor suppressor gene is responsible for the inherited genetic disease of tuberous sclerosis complex. TSC1 and TSC2 form a physical and functional complex to regulate cell growth. Recently, it has been demonstrated that TSC1.TSC2 functions to inhibit ribosomal S6 kinase and negatively regulate cell size.
Yong, Li, Ken, Inoki, Raymond, Yeung, Kun-Liang, Guan   +3 more
openaire   +2 more sources