Results 1 to 10 of about 23,802 (146)

Mammalian Target of Rapamycin Complex 1 (mTORC1) Enhances Bortezomib-induced Death in Tuberous Sclerosis Complex (TSC)-null Cells by a c-MYC-dependent Induction of the Unfolded Protein Response [PDF]

Journal of Biological Chemistry, 2013
Many factors, including duration and intensity of the unfolded protein response (UPR), dictate whether cells will adapt to endoplasmic reticulum stress or undergo apoptosis. In tuberous sclerosis (TSC), elevation of mammalian target of rapamycin complex 1 (mTORC1) activity has been proposed to compound the induction of UPR transcription factors ATF4 ...
Justin T, Babcock, Hoa B, Nguyen, Yujun, He, Jeremiah W, Hendricks, Ronald C, Wek, Lawrence A, Quilliam   +5 more
openaire   +3 more sources

Tuberous Sclerosis Complex in a 17-month-old: A Case Report

Journal of Nepal Medical Association, 2023
Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e.
Sarjan K.C., Anjana Bohaju, Sunil Raja Manandhar, Anup Shrestha, Erika Aryal, Pradeep Maharjan   +5 more
doaj   +2 more sources

Deficiency in pulmonary surfactant proteins in mice with fatty acid binding protein 4‐Cre‐mediated knockout of the tuberous sclerosis complex 1 gene [PDF]

Experimental Physiology, 2012
New findings What is the central question of this study?Does tuberous sclerosis complex 1–mammalian target of rapamycin (mTOR) signalling regulate the synthesis of surfactant proteins A and B and, if so, can this contribute to the postnatal death of Fabp4‐Tsc1cKO mice?
Xiang, Xinxin, Yuan, Fang, Zhao, Jing, Li, Ziru, Wang, Xian, Guan, Youfei, Tang, Chaoshu, Sun, Guang, Li, Yin, Zhang, Weizhen   +9 more
openaire   +4 more sources

Analysis of Proteins That Rapidly Change Upon Mechanistic/Mammalian Target of Rapamycin Complex 1 (mTORC1) Repression Identifies Parkinson Protein 7 (PARK7) as a Novel Protein Aberrantly Expressed in Tuberous Sclerosis Complex (TSC)

Molecular & Cellular Proteomics, 2016
Many biological processes involve the mechanistic/mammalian target of rapamycin complex 1 (mTORC1). Thus, the challenge of deciphering mTORC1-mediated functions during normal and pathological states in the central nervous system is challenging. Because mTORC1 is at the core of translation, we have investigated mTORC1 function in global and regional ...
Farr, Niere, Sanjeev, Namjoshi, Ehwang, Song, Geoffrey A, Dilly, Grant, Schoenhard, Boris V, Zemelman, Yehia, Mechref, Kimberly F, Raab-Graham   +7 more
openaire   +3 more sources

Tuberous Sclerosis Complex cell‐derived EVs have an altered protein cargo capable of regulating their microenvironment and have potential as disease biomarkers

Journal of Extracellular Vesicles, 2023
Hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) is a feature of many solid tumours and is a key pathogenic driver in the inherited condition Tuberous Sclerosis Complex (TSC).
Muireann Ní Bhaoighill, Juan M. Falcón‐Pérez, Félix Royo, Andrew R. Tee, Jason P. Webber, Elaine A. Dunlop   +5 more
doaj   +2 more sources

Inhibition of ERK1/2 Restores GSK3β Activity and Protein Synthesis Levels in a Model of Tuberous Sclerosis

Scientific Reports, 2017
Tuberous sclerosis (TS) is a multi-organ autosomal dominant disorder that is best characterized by neurodevelopmental deficits and the presence of benign tumors.
Rituraj Pal, Vitaliy V. Bondar, Carolyn J. Adamski, George G. Rodney, Marco Sardiello   +4 more
doaj   +3 more sources

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   +2 more sources

A bitopic mTORC inhibitor reverses phenotypes in a tuberous sclerosis complex model

Scientific Reports
Neural stem cells (NSCs) of the ventricular-subventricular zone (V-SVZ) generate diverse cell types including striatal glia during the neonatal period. NSC progeny uncouple stem cell-related mRNA transcripts from being translated during differentiation ...
Sulagna Mukherjee, Matthew J. Wolan, Mary K. Scott, Victoria A. Riley, Aidan M. Sokolov, David M. Feliciano   +5 more
doaj   +2 more sources

Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration

Neurobiology of Disease, 2011
Tuberous sclerosis complex (TSC) is a neurogenetic disorder that often causes brain abnormalities leading to epilepsy, developmental delay, and autism.
R. Michelle Reith, Sharon Way, James McKenna, III, Katherine Haines, Michael J. Gambello   +4 more
doaj   +2 more sources

Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations

Molecular Autism, 2023
Background Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in the TSC1 or TSC2 genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders ...
I. Aksoylu, Pauline Martin, Francis Robert, Krzysztof J. Szkop, Nicholas E. Redmond, Srirupa Bhattacharyya, Jennifer Wang, Shan Chen, R. Beauchamp, Irene Nobeli, Jerry Pelletier, Ola Larsson, V. Ramesh   +12 more
semanticscholar   +1 more source