Results 41 to 50 of about 37,863 (256)

Focal postnatal deletion of <i>Tsc2</i> causes epilepsy. [PDF]

Front Mol Neurosci
Introduction Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in either the TSC1 or TSC2 genes. These mutations prevent the TSC1/TSC2 protein complex from forming, resulting in
McCoy C, Dusing M, Jerow LG, Winstel GC, Zhan F, Rogers JL, Wesley M, Otten JB, Danzer SC, LaSarge CL.   +9 more
europepmc   +2 more sources

Molecular pathogenesis and targeted therapy of sporadic pancreatic neuroendocrine tumors [PDF]

, 2015
Over the past few years, knowledge regarding the molecular pathology of sporadic pancreatic neuroendocrine tumors (PNETs) has increased substantially, and a number of targeted agents have been tested in clinical trials in this tumor type.
Ahn, Balogh, Bergers, Berruti, Capurso, Capurso, Carew, Castellano, Chamberlain, Chan, Chan, Chen, Clynes, Corbo, Corbo, Couvelard, De Wilde, Di Florio, Di Florio, Di Florio, Fazio, Fendrich, Gaur, Gurung, Han, Heaphy, Heaphy, Hobday, Hopfner, House, Jacinto, Jensen, Jiao, Karnik, Karnik, Komori, Kulke, Laplante, Loewith, Lovejoy, Luzi, Marinoni, Marion-Audibert, Mendel, Meric-Bernstam, Missiaglia, Mocellin, Panzuto, Papouchado, Passacantilli, Perren, Pàez-Ribes, Raymond, Sarbassov, Scoazec, Shah, Shi, Tang, Vinagre, Wang, Yang, Yao, Yuan, Zhang, Zhang   +64 more
core   +1 more source

Regulation of TSC2 lysosome translocation and mitochondrial turnover by TSC2 acetylation status

Scientific Reports
AbstractSirtuin1 (SIRT1) activity decreases the tuberous sclerosis complex 2 (TSC2) lysine acetylation status, inhibiting the mechanistic target of rapamycin complex 1 (mTORC1) signalling and concomitantly, activating autophagy. This study analyzes the role of TSC2 acetylation levels in its translocation to the lysosome and the mitochondrial turnover ...
Patricia Marqués, Jesús Burillo, Carlos González-Blanco, Beatriz Jiménez, Gema García, Ana García-Aguilar, Sarai Iglesias-Fortes, Ángela Lockwood, Carlos Guillén   +8 more
openaire   +5 more sources

Sodium hydroxide enhances the efficacy of rapamycin to suppress proliferation of Tsc2-null mouse embryonic fibroblasts [PDF]

Jichu yixue yu linchuang, 2021
Objective To explore the effect of sodium hydroxide(NaOH) and rapamycin(Rapa) alone or their combination in treating Tsc2-null(Tsc2-/-) mouse embryonic fibroblasts.
LI Kai, WANG Ya-nan
doaj  

Resistance to anti-HER2 therapy associated with the TSC2 nonsynonymous variant c.4349 C > G (p.Pro1450Arg) is reversed by CDK4/6 inhibitor in HER2-positive breast cancer

npj Breast Cancer, 2023
HER2-positive breast cancer patients carrying the germline TSC2 nonsynonymous variant c.4349 C > G (p.Pro1450Arg) are resistant to anti-HER2 therapy. Multi-predictor in silico analysis reveals that this variant is deleterious.
Ziyan Yang, Jianguo Feng, Ji Jing, Yuan Huang, Wei-Wu Ye, Lei Lei, Xiao-Jia Wang, Wen-Ming Cao   +7 more
doaj   +1 more source

Doxycycline reduces the migration of tuberous sclerosis complex-2 null cells - effects on RhoA-GTPase and focal adhesion kinase [PDF]

, 2015
& Sons Ltd and Foundation for Cellular and Molecular Medicine. Lymphangioleiomyomatosis (LAM) is associated with dysfunction of the tuberous sclerosis complex (TSC) leading to enhanced cell proliferation and migration.
Black, JL, Burgess, JK, Krymskaya, VP, Moir, LM, Ng, HY, Oliver, BGG   +5 more
core   +1 more source

Tsc2-Rheb signaling regulates EphA-mediated axon guidance [PDF]

Nature Neuroscience, 2010
Tuberous sclerosis complex is a disease caused by mutations in the TSC1 or TSC2 genes, which encode a protein complex that inhibits mTOR kinase signaling by inactivating the Rheb GTPase. Activation of mTOR promotes the formation of benign tumors in various organs and the mechanisms underlying the neurological symptoms of the disease remain largely ...
Nie D, Di Nardo A, Han JM, Baharanyi H, Kramvis I, Huynh T, Dabora S, Codeluppi S, PANDOLFI DE RINALDIS, Pier Paolo, Pasquale EB, Sahin M.   +10 more
openaire   +3 more sources

Identifcation of genotypescarriers of resistance to tan spot Ptr ToxA and Ptr ToxB of Pyrenophora tritici-repentis in common wheat collection

Вавиловский журнал генетики и селекции, 2019
Pyrenophora tritici-repentis (Ptr) is the causative agent of tan spot, one of the yield limiting diseases of wheat, rapidly increasing in wheat growing countries including Kazakhstan.
A. М. Kokhmetova, Sh. Ali, Z. Sapakhova, M. N. Atishova   +3 more
doaj   +1 more source

Microglial ASD-related genes are involved in oligodendrocyte differentiation

Scientific Reports, 2021
Autism spectrum disorders (ASD) are associated with mutations of chromodomain-helicase DNA-binding protein 8 (Chd8) and tuberous sclerosis complex 2 (Tsc2).
Yuta Takanezawa, Shogo Tanabe, Daiki Kato, Rie Ozeki, Masayo Komoda, Tatsunori Suzuki, Hiroko Baba, Rieko Muramatsu   +7 more
doaj   +1 more source

Vps34-mediated macropinocytosis in Tuberous Sclerosis Complex 2-deficient cells supports tumorigenesis

Scientific Reports, 2018
Tuberous Sclerosis Complex (TSC), a rare genetic disorder with mechanistic target of rapamycin complex 1 (mTORC1) hyperactivation, is characterized by multi-organ hamartomatous benign tumors including brain, skin, kidney, and lung ...
Harilaos Filippakis, Amine Belaid, Brian Siroky, Constance Wu, Nicola Alesi, Thomas Hougard, Julie Nijmeh, Hilaire C. Lam, Elizabeth P. Henske   +8 more
doaj   +1 more source