Results 31 to 40 of about 18,686 (194)

TSC1 controls distribution of actin fibers through its effect on function of Rho family of small GTPases and regulates cell migration and polarity.

PLoS ONE, 2013
The tumor-suppressor genes TSC1 and TSC2 are mutated in tuberous sclerosis, an autosomal dominant multisystem disorder. The gene products of TSC1 and TSC2 form a protein complex that inhibits the signaling of the mammalian target of rapamycin complex1 ...
Maki Ohsawa, Toshiyuki Kobayashi, Hidehiro Okura, Takashi Igarashi, Masashi Mizuguchi, Okio Hino   +5 more
doaj   +1 more source

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

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

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

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity. [PDF]

Epilepsia Open
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Seyedtaghia MR, Babanzadeh J, Scala M, Perilli L, Striano P.   +4 more
europepmc   +2 more sources

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

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

PLoS ONE, 2019
The aim of our study was to elucidate the landscapes of genetic alterations of TSC1 and TSC2 as well as other possible non-TSC1/2 in Lymphangioleiomyomatosis (LAM) patients. Sixty-one Chinese LAM patients' clinical information was collected.
Jie Liu, Weiwei Zhao, Xiaohua Ou, Zhen Zhao, Changming Hu, Mingming Sun, Feifei Liu, Junhao Deng, Weili Gu, Jiaying An, Qingling Zhang, Xiaoxian Zhang, Jiaxing Xie, Shiyue Li, Rongchang Chen, Shihui Yu, Nanshan Zhong   +16 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

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

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