Results 31 to 40 of about 18,516 (170)

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

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

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

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

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

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 more
wiley   +1 more source

Everolimus Reduces the Size of Tuberous Sclerosis Complex-Related Huge Renal Angiomyolipomas Exceeding 20 cm in the Longest Diameter

Case Reports in Oncology, 2018
We evaluated the efficacy of everolimus in 3 patients who had huge renal angiomyolipomas associated with tuberous sclerosis complex. Two patients with large lipid-rich angiomyolipomas had a history of renal transarterial embolization for renal bleeding ...
Naoya Toriu, Hiroki Mizuno, Naoki Sawa, Keiichi Sumida, Tatsuya Suwabe, Noriko Hayami, Akinari Sekine, Masayuki Yamanouchi, Junichi Hoshino, Kenmei Takaichi, Motoko Yanagita, Takuya Fujimaru, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yoshifumi Ubara   +15 more
doaj   +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

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source