Results 41 to 50 of about 31,123,995 (208)

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

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

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

Prdx5 in the Regulation of Tuberous Sclerosis Complex Mutation-Induced Signaling Mechanisms

Cells, 2023
(1) Background: Tuberous sclerosis complex (TSC) mutations directly affect mTORC activity and, as a result, protein synthesis. In several cancer types, TSC mutation is part of the driver mutation panel.
Judit Bovari-Biri, ElHusseiny Mohamed Mahmoud Abdelwahab, Kitti Garai, Judit E. Pongracz   +3 more
doaj   +1 more source

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  

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

Hypoxia impairs adaptation of skeletal muscle protein turnover- and AMPK signaling during fasting-induced muscle atrophy. [PDF]

PLoS ONE, 2018
BACKGROUND:Hypoxemia in humans may occur during high altitude mountaineering and in patients suffering from ventilatory insufficiencies such as cardiovascular- or respiratory disease including Chronic Obstructive Pulmonary Disease (COPD).
C C de Theije, A M W J Schols, W H Lamers, D Neumann, S E Köhler, R C J Langen   +5 more
doaj   +1 more source

mTORC1 Activation by Loss of Tsc1 in Myelinating Glia Causes Downregulation of Quaking and Neurofascin 155 Leading to Paranodal Domain Disorganization

Frontiers in Cellular Neuroscience, 2018
Mutations in human tuberous sclerosis complex (TSC) genes TSC1 and TSC2 are the leading causes of developmental brain abnormalities and large tumors in other tissues.
Qian Shi, Julia Saifetiarova, Anna Marie Taylor, Manzoor A. Bhat   +3 more
doaj   +1 more source

Impaired Chaperone‐Mediated Autophagy Accelerates Intervertebral Disc Degeneration by Inducing MIDN Accumulation to Target TSC2 for Proteasomal Degradation

Advanced Science, EarlyView.
This graphical abstract illustrates how chaperone‐mediated autophagy (CMA) regulates intervertebral disc degeneration (IDD). Under normal homeostasis (B), CMA degrades cytoplasmic Midnolin (MIDN) to maintain proteostasis. Under inflammatory stress (A), impaired CMA leads to cytoplasmic MIDN accumulation.
Xianglong Chen, Haiyang Gao, Wang Wu, Pengzhi Shi, Yuhang Chen, Anran Zhang, Zhangrong Cheng, Wenbo Wu, Zimu Yu, Yukun Zhang   +9 more
wiley   +1 more source

Anodal Transcranial Direct Current Stimulation Improves Social Behavior Alongside Neuroplastic Changes in a Tsc2+/− Rat Model of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by altered synaptic connectivity and network organization, resulting in profound impairments in social communication and interaction. Transcranial direct current stimulation (tDCS) represents a promising approach to modulate maladaptive plasticity associated with ASD;
Antonia Ramme, Rebecca Winter, Natalia Jarzebska, Fatih Ögel, Marten Julian Richter, Iveta Vojtechova, Christine Winter, Tomas Petrasek, Robert Waltereit, Nadine Bernhardt   +9 more
wiley   +1 more source