Results 41 to 50 of about 23,821 (165)

Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7)*

Journal of Biological Chemistry, 2016
Mutations in TSC1 or TSC2 cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the occurrence of benign tumors in various vital organs and tissues.
Jiayue Qin, Zhizhi Wang, M. Hoogeveen‐Westerveld, G. Shen, W. Gong, M. Nellist, Wenqing Xu   +6 more
semanticscholar   +1 more source

IMPDH inhibitors for antitumor therapy in tuberous sclerosis complex.

JCI Insight, 2020
Recent studies in distinct preclinical tumor models have established the nucleotide synthesis enzyme inosine-5'-monophosphate dehydrogenase (IMPDH) as a viable target for antitumor therapy.
Alexander J. Valvezan, Molly C. McNamara, Spencer K Miller, M. Torrence, J. Asara, E. Henske, B. Manning   +6 more
semanticscholar   +1 more source

Inactivation of the Tuberous Sclerosis Complex-1 and -2 Gene Products Occurs by Phosphoinositide 3-Kinase/Akt-dependent and -independent Phosphorylation of Tuberin*

Journal of Biological Chemistry, 2003
The tuberous sclerosis complex (TSC) is a genetic disorder that is caused through mutations in either one of the two tumor suppressor genes, TSC1 and TSC2, that encode hamartin and tuberin, respectively.
Andrew R. Tee, R. Anjum, J. Blenis
semanticscholar   +1 more source

Stability of tuberous sclerosis complex 2 is controlled by methylation at R1457 and R1459

Scientific Reports, 2020
Mutations in genes that encode components of tuberous sclerosis complex 2 (TSC2) are associated with tuberous sclerosis complex disease. TSC2 interacts with tuberous sclerosis complex 1 to form a complex that negatively regulates cell growth and ...
Seishu Gen, Y. Matsumoto, Ken-Ichi Kobayashi, Tsukasa Suzuki, J. Inoue, Yuji Yamamoto   +5 more
semanticscholar   +1 more source

Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation

Stem Cell Research
The tuberous sclerosis complex 1 (TSC1) gene encodes for the growth inhibitory protein, hamartin, and has been clinically implicated in tuberous sclerosis complex (TSC) and associated epilepsy.
Shiwen Weng, Lu Liu, Qian Ren, Qun Wang, Wei Shan   +4 more
doaj   +1 more source

Evidence of molecular links between PKR and mTOR signalling pathways in Aβ neurotoxicity: Role of p53, Redd1 and TSC2

Neurobiology of Disease, 2009
The control of translation is disturbed in Alzheimer's disease (AD). This study analysed the crosslink between the up regulation of double-stranded RNA-dependent-protein kinase (PKR) and the down regulation of mammalian target of rapamycin (mTOR ...
Milena Morel, Julien Couturier, Raymond Pontcharraud, Roger Gil, Bernard Fauconneau, Marc Paccalin, Guylène Page   +6 more
doaj   +1 more source

Regulation of colonic epithelial cell homeostasis by mTORC1

Scientific Reports, 2020
Cell signaling important for homeostatic regulation of colonic epithelial cells (CECs) remains poorly understood. Mammalian target of rapamycin complex 1 (mTORC1), a protein complex that contains the serine-threonine kinase mTOR, mediates signaling that ...
Takenori Kotani, Jajar Setiawan, Tasuku Konno, Noriko Ihara, Saki Okamoto, Yasuyuki Saito, Yoji Murata, Tetsuo Noda, Takashi Matozaki   +8 more
doaj   +1 more source

Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC). [PDF]

PLoS ONE, 2012
Tuberous sclerosis complex (TSC) is a human genetic disorder in which loss of either TSC1 or TSC2 leads to development of hamartoma lesions, which can progress and be life-threatening or fatal.
Neil Auricchio, Izabela Malinowska, Reuben Shaw, Brendan D Manning, David J Kwiatkowski   +4 more
doaj   +1 more source

Aberrant DJ-1 expression underlies L-type calcium channel hypoactivity in tuberous sclerosis complex and Alzheimer’s disease

bioRxiv, 2020
L-type voltage-dependent Ca2+ channels (L-VDCC) integrate synaptic signals to facilitate a plethora of cellular mechanisms. L-VDCC dysfunction is implicated in several neurological and psychiatric diseases. Despite their importance, signals upstream of L-
Farr Niere, Luisa P Cacheaux, Ayse Uneri, S. Namjoshi, Cameron Reynoldson, J. Peñaranda, W. C. Taylor, S. Craft, C. Keene, T. Ma, Kimberly F. Raab-Graham   +10 more
semanticscholar   +1 more source

Tuberous Sclerosis Complex 1 Regulates dE2F1 Expression during Development and Cooperates with RBF1 to Control Proliferation and Survival

PLoS Genetics, 2010
Previous studies in Drosophila melanogaster have demonstrated that many tumor suppressor pathways impinge on Rb/E2F to regulate proliferation and survival. Here, we report that Tuberous Sclerosis Complex 1 (TSC1), a well-established tumor suppressor that
T.-C. Hsieh, Brandon Nicolay, M. Frolov, N. Moon   +3 more
semanticscholar   +1 more source