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Role of TSC1 in physiology and diseases

Molecular and Cellular Biochemistry, 2021
Since its initial discovery as the gene altered in Tuberous Sclerosis Complex (TSC), an autosomal dominant disorder, the interest in TSC1 (Tuberous Sclerosis Complex 1) has steadily risen. TSC1, an essential component of the pro-survival PI3K/AKT/MTOR signaling pathway, plays an important role in processes like development, cell growth and ...
Karthik Mallela, Arun Kumar
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Evolution of the TSC1/TSC2-TOR Signaling Pathway

Science Signaling, 2010
The TSC1/TSC2-TOR signaling pathway evolved from a primitive signaling pathway linking adenosine monophosphate abundance to cell growth.
Jaco, Serfontein   +3 more
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Analysis of TSC1 mutation spectrum in mucosal melanoma

Journal of Cancer Research and Clinical Oncology, 2017
Mucosal melanoma is a relatively rare subtype of melanoma for which no clearly established therapeutic strategy exists. The genes of the mTOR signalling pathway have drawn great attention as key targets for cancer treatment, including melanoma. In this study, we aimed to investigate the mutation status of the upstream mTOR regulator TSC1 and evaluated ...
Meng Ma   +14 more
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Tackling Tsc1 to Promote Nephrogenesis

New England Journal of Medicine, 2018
Hamartin and Kidney Development A pivotal event in kidney development is the formation of nephrons, the number of which is inversely proportional to the risk of kidney disease.
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The TSC1 gene product hamartin interacts with NADE

Molecular and Cellular Neuroscience, 2007
Hamartomatous brain lesions are a hallmark of brain pathology of tuberous sclerosis complex (TSC). To elucidate the mechanism of tumor development in the brain of TSC, we identified NADE (p75NTR-associated cell death executor) as an interactor for TSC1 gene product hamartin using a yeast two-hybrid system.
Sakiko, Yasui   +9 more
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Tsc1 controls the development and function of alveolar macrophages

Biochemical and Biophysical Research Communications, 2018
Alveolar macrophages (AMs) are pivotal for maintaining the lung homeostasis, but how the development and function of AMs regulated remains largely unknown. In the present study, we demonstrated that the number of AMs was controlled by the Tsc1 protein. Cd11c-specific deletion of Tsc1 caused inefficient transition from pre-AMs to AMs in lung, which led ...
Song, Chen   +5 more
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