Results 1 to 10 of about 28,615 (209)

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
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The TSC Complex-mTORC1 Axis: From Lysosomes to Stress Granules and Back

Frontiers in Cell and Developmental Biology, 2021
The tuberous sclerosis protein complex (TSC complex) is a key integrator of metabolic signals and cellular stress. In response to nutrient shortage and stresses, the TSC complex inhibits the mechanistic target of rapamycin complex 1 (mTORC1) at the ...
Ulrike Rehbein, Mirja Tamara Prentzell, Mirja Tamara Prentzell, Marti Cadena Sandoval, Marti Cadena Sandoval, Alexander Martin Heberle, Alexander Martin Heberle, Elizabeth P. Henske, Christiane A. Opitz, Christiane A. Opitz, Kathrin Thedieck, Kathrin Thedieck, Kathrin Thedieck   +12 more
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Genetic and Environmental Contributions to Autism Spectrum Disorder Through Mechanistic Target of Rapamycin

Biological Psychiatry Global Open Science, 2022
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects an individual’s reciprocal social interaction and communication ability.
Atsushi Sato, Kazutaka Ikeda
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Tuberous Sclerosis Complex Proteins 1 and 2 Control Serum-Dependent Translation in a TOP-Dependent and -Independent Manner [PDF]

Molecular and Cellular Biology, 2007
The tuberous sclerosis complex (TSC) proteins TSC1 and TSC2 regulate protein translation by inhibiting the serine/threonine kinase mTORC1 (for mammalian target of rapamycin complex 1). However, how TSC1 and TSC2 control overall protein synthesis and the translation of specific mRNAs in response to different mitogenic and nutritional stimuli is largely ...
Benoit, Bilanges, Rhoda, Argonza-Barrett, Marina, Kolesnichenko, Christina, Skinner, Manoj, Nair, Michelle, Chen, David, Stokoe   +6 more
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Blocking the Farnesyl Pocket of PDEδ Reduces Rheb-Dependent mTORC1 Activation and Survival of Tsc2-Null Cells

Frontiers in Pharmacology, 2022
Rheb is a small GTPase member of the Ras superfamily and an activator of mTORC1, a protein complex master regulator of cell metabolism, growth, and proliferation. Rheb/mTORC1 pathway is hyperactivated in proliferative diseases, such as Tuberous Sclerosis
Marisol Estrella Armijo, Marisol Estrella Armijo, Emilia Escalona, Daniela Peña, Alejandro Farias, Violeta Morin, Matthias Baumann, Bert Matthias Klebl, Roxana Pincheira, Ariel Fernando Castro   +9 more
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p38 regulates the tumor suppressor PDCD4 via the TSC-mTORC1 pathway

Cell Stress, 2021
Programmed cell death protein 4 (PDCD4) exerts critical functions as tumor suppressor and in immune cells to regulate inflammatory pro-cesses. The phosphoinositide 3-kinase (PI3K) promotes degradation of PDCD4 via mammalian target of rapamycin complex 1 (
Clarissa Braun, Karl Katholnig, Christopher Kaltenecker, Monika Linke, Nyamdelger Sukhbaatar, Markus Hengstschläger, Thomas Weichhart   +6 more
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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
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Lost in translation: a neglected mTOR target for lymphangioleiomyomatosis

European Respiratory Review, 2023
Lymphangioleiomyomatosis (LAM) is a cystic lung disease of women resulting from mutations in tuberous sclerosis complex (TSC) genes that suppress the mammalian target of rapamycin complex 1 (mTORC1) pathway.
Jilly F. Evans, Francis X. McCormack, Nahum Sonenberg, Vera P. Krymskaya   +3 more
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Reversal of memory and autism-related phenotypes in Tsc2+/− mice via inhibition of Nlgn1

Frontiers in Cell and Developmental Biology, 2023
Tuberous sclerosis complex (TSC) is a rare monogenic disorder co-diagnosed with high rates of autism and is caused by loss of function mutations in the TSC1 or TSC2 genes.
Kleanthi Chalkiadaki, Kleanthi Chalkiadaki, Elpida Statoulla, Maria Zafeiri, Nabila Haji, Jean-Claude Lacaille, Craig M. Powell, Seyed Mehdi Jafarnejad, Arkady Khoutorsky, Christos G. Gkogkas   +9 more
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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   +2 more sources