Results 41 to 50 of about 18,157 (223)

The mTOR Independent Function of Tsc1 and FNIPs [PDF]

Trends in Biochemical Sciences, 2018
New roles for Tsc1 and FNIP1/2 as regulators of the molecular chaperone Hsp90 were recently identified, demonstrating a broader cellular impact outside of AMPK-mTOR signaling. In studying the function of these proteins we must take a holistic view of the cell, instead of maintaining our focus on a single pathway.
Rebecca A, Sager, Mark R, Woodford, Mehdi, Mollapour   +2 more
openaire   +2 more sources

Tsc1 is a Critical Regulator of Macrophage Survival and Function

Cellular Physiology and Biochemistry, 2015
Background/Aims: Tuberous sclerosis complex 1 (Tsc1) has been shown to regulate M1/M2 polarization of macrophages, but the precise roles of Tsc1 in the function and stability of macrophages are not fully understood. Here we show that Tsc1 is required for
Chunmin Fang, Juan Yu, Yuechen Luo, Song Chen, Weiqiang Wang, Chunxiao Zhao, Zhina Sun, Wantong Wu, Wei Guo, Zhongchao Han, Xiao Hu, Fang Liao, Xiaoming Feng   +12 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

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

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 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

Correlation between TSC1 gene polymorphism and epilepsy

Experimental and Therapeutic Medicine, 2017
The correlation between tuberous sclerosis complex 1 (TSC1) gene polymorphism and epilepsy was studied. In total, 38 patients with epilepsy treated in People's Hospital of Rizhao from May 2015 to June 2016 were selected as study subjects, as the observation group, 38 healthy people in the same period were selected as the control group. Polymerase chain
Jiang, Xiuli, Chen, Jiajia, Song, Quanjiang, Wang, Weiling, Zhang, Guangyan, Li, Ye   +5 more
openaire   +3 more sources

Livers with constitutive mTORC1 activity resist steatosis independent of feedback suppression of Akt. [PDF]

PLoS ONE, 2015
Insulin resistance is an important contributing factor in non-alcoholic fatty liver disease. AKT and mTORC1 are key components of the insulin pathway, and play a role in promoting de novo lipogenesis.
Heidi L Kenerson, Savitha Subramanian, Rebecca McIntyre, Machiko Kazami, Raymond S Yeung   +4 more
doaj   +1 more source

Vitamin D Regulates Olfactory Function via Dual Transcriptional and mTOR‐Dependent Translational Control of Synaptic Proteins

Advanced Science, EarlyView.
Vitamin D (VitD) modulates olfactory function by remodeling dendrodendritic synapses in tufted cells through vitamin D receptor‐dependent transcriptional and translational mechanisms. VitD regulates synaptic protein translation partially via mTOR signaling.
Pengcheng Ren, Renhe Cao, Xiaoshan Ye, Wenbin Pang, Qingshang Bi, Meihui Huang, Qionglin Zhou, Dan Ye, Wei Xiang, Le Xiao   +9 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source