Results 41 to 50 of about 20,458 (226)

A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense‐mediated mRNA degradation (NMD) simultaneously in a Chinese family

Molecular Genetics & Genomic Medicine, 2020
Background Tuberous sclerosis complex (TSC), belongs to autosomal dominant genetic disorder, which affects multiple organ systems in the body, including the skin, brain, lungs, kidneys, liver, and eyes.
Cong Qiu, Chengyan Li, Xiaoyun Tong, Luoyang Dai, Wenda Liu, Yulie Xie, Qimei Zhang, Guohua Yang, Tao Li   +8 more
doaj   +1 more source

Loss of Tsc1 from striatal direct pathway neurons impairs endocannabinoid-LTD and enhances motor routine learning

Cell Reports, 2021
Summary: Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder that often presents with psychiatric conditions, including autism spectrum disorder (ASD).
Katelyn N. Benthall, Katherine R. Cording, Alexander H.C.W. Agopyan-Miu, Corinna D. Wong, Emily Y. Chen, Helen S. Bateup   +5 more
doaj   +1 more source

Akt phosphorylates both Tsc1 and Tsc2 in Drosophila, but neither phosphorylation is required for normal animal growth. [PDF]

PLoS ONE, 2009
Akt, an essential component of the insulin pathway, is a potent inducer of tissue growth. One of Akt's phosphorylation targets is Tsc2, an inhibitor of the anabolic kinase TOR. This could account for part of Akt's growth promoting activity.
Sibylle Schleich, Aurelio A Teleman
doaj   +1 more source

White Matter Loss in a Mouse Model of Periventricular Leukomalacia Is Rescued by Trophic Factors

Brain Sciences, 2013
Periventricular leukomalacia (PVL) is the most frequent cause of cerebral palsy and other intellectual disabilities, and currently there is no treatment.
Pierre Gressens, Alfredo Feria-Velasco, Michael S. Levine, Carlos Cepeda, Brian Chu, Don P. Dejarme, Sandra M. Holley, Payam Bokhoor, Paul M. Zhao, Alana Taniguchi, Alfonso R. Arrazola, Socorro A. R. Barajas, Araceli Espinosa-Jeffrey, Jean de Vellis   +13 more
doaj   +1 more source

The variation of AkT/TSC1–TSC1/mTOR signal pathway in hepatocytes after partial hepatectomy in rats

Experimental and Molecular Pathology, 2009
The aim of this study was to investigate the role and regulatory mechanisms of Akt/TSC1-TSC2/mTOR signal pathway on the hepatocyte growth and proliferation after partial hepatectomy in rats.We used the animal model of 70% hepatectomy, separated and cultivated hepatocytes.
Ping, Chen, Hongtao, Yan, Yin, Chen, Zhonglin, He   +3 more
openaire   +2 more sources

Tsc1 deletion in Purkinje neurons disrupts the axon initial segment, impairing excitability and cerebellar function

Neurobiology of Disease
Loss-of-function mutations in tuberous sclerosis 1 (TSC1) are prevalent monogenic causes of autism spectrum disorder (ASD). Selective deletion of Tsc1 from mouse cerebellar Purkinje neurons has been shown to cause several ASD-linked behavioral ...
Samuel P. Brown, Achintya K. Jena, Joanna J. Osko, Joseph L. Ransdell   +3 more
doaj   +1 more source

The Role of TSC1 in the Macrophages Against Vibrio vulnificus Infection

Frontiers in Cellular and Infection Microbiology, 2021
Vibrio vulnificus (V. vulnificus) is an estuarine bacterium that is capable of causing rapidly fatal infection in humans. Proper polarization and bactericidal activity of macrophages play essential roles in defending against invading pathogens.
Xian-Hui Huang, Xian-Hui Huang, Xian-Hui Huang, Yao Ma, Yao Ma, Yao Ma, Han Lou, Na Chen, Na Chen, Ting Zhang, Liu-Ying Wu, Liu-Ying Wu, Yi-Ju Chen, Yi-Ju Chen, Meng-Meng Zheng, Meng-Meng Zheng, Yong-Liang Lou, Yong-Liang Lou, Yong-Liang Lou, Dan-Li Xie, Dan-Li Xie, Dan-Li Xie   +21 more
doaj   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 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

The small molecule simufilam dose‐dependently attenuates the worsening of seizures in a mouse model of tuberous sclerosis complex

Epilepsia, EarlyView.
Abstract Objective Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy ...
Branden Stansley, Md. Monirul Islam, Dean J. Aguiar, Zoë Fuchs, Mackenzie Catron, Stephen Morairty, Ying Yuan, Radleigh Santos, Jingguo Hou, Annelies de Kater, George B. Thornton, Angelique Bordey   +11 more
wiley   +1 more source