Results 11 to 20 of about 18,866 (220)

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   +2 more sources

Activation of protein synthesis in cardiomyocytes by the hypertrophic agent phenylephrine requires the activation of ERK and involves phosphorylation of tuberous sclerosis complex 2 (TSC2) [PDF]

Biochemical Journal, 2005
The hypertrophic Gq-protein-coupled receptor agonist PE (phenylephrine) activates protein synthesis. We showed previously that activation of protein synthesis by PE requires MEK [MAPK (mitogen-activated protein kinase)/ERK (extracellular-signal-regulated kinase) kinase] and mTOR (mammalian target of rapamycin).
Rolfe, M., McLeod, L.E., Pratt, P.F., Proud, C.G.   +3 more
openaire   +4 more sources

Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis

Journal of the Formosan Medical Association, 2006
Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC). TSC is caused by mutations in the genes TSC1 and TSC2.
Chih-Ping Chen, Yi-Ning Su, Chia-Cheng Hung, Jin-Chung Shih, Wayseen Wang   +4 more
doaj   +2 more sources

Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by multisystem hamartomas caused by pathogenic variants in TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestations.
Fekih A, Heni W, Messaoudi C, Selmi Y, Touati D, Elloumi Z, Labidi J.   +6 more
europepmc   +2 more sources

<i>TSC2</i> GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex. [PDF]

Neurol Genet
Objectives: Tuberous sclerosis complex (TSC) is autosomal dominant neurocutaneous disorder caused by TSC1/2 pathogenic variants. We report a child with refractory epilepsy and developmental delay who harbors a de novo TSC2 p.V1646Cfs*7 variant.
Utami KH, Han VX, Mohammad Yusof NAB, Ramaswamy Y, Feng J, Tay SKH, Langley SR, Pouladi MA.   +7 more
europepmc   +2 more sources

Polymerized Collagen Inhibits Fibroblast Proliferation via a Mechanism Involving the Formation of a β1 Integrin-Protein Phosphatase 2A-Tuberous Sclerosis Complex 2 Complex That Suppresses S6K1 Activity [PDF]

Journal of Biological Chemistry, 2008
Polymerized type I collagen suppresses fibroblast proliferation. Previous studies have implicated inhibition of fibroblast proliferation with polymerized collagen-mediated suppression of S6K1, but the molecular mechanism of the critical negative feedback loop has not yet been fully elucidated. Here, we demonstrate that polymerized collagen suppresses G(
Hong, Xia, Richard, Nho, Jill, Kleidon, Judy, Kahm, Craig A, Henke   +4 more
openaire   +2 more sources

Enhanced expression of glucose transporter-1 in vascular smooth muscle cells via the Akt/tuberous sclerosis complex subunit 2 (TSC2)/mammalian target of rapamycin (mTOR)/ribosomal S6 protein kinase (S6K) pathway in experimental renal failure [PDF]

Journal of Vascular Surgery, 2013
Chronic renal failure (CRF) is associated with increased cardiovascular mortality, and medial vascular smooth muscle cell (VSMC) hypertrophy, proliferation, and calcification play a pivotal role in uremic vasculopathy. Glucose transporter-1 (GLUT1) facilitates the transport of glucose into VSMCs, and GLUT1 overexpression associated with high glucose ...
Lin, Chih-Yuan, Hsu, Shih-Che, Lee, Herng-Sheng, Lin, Shih-Hua, Tsai, Chien-Sung, Huang, Shih-Ming, Shih, Chun-Che, Hsu, Yu-Juei   +7 more
openaire   +2 more sources

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

ETV2 regulates PARP-1 binding protein to induce ER stress–mediated death in tuberin-deficient cells

Life Science Alliance, 2022
In tuberin-deficient cells, SYK regulates ETV2 nuclear translocation, where it regulated Parpbp expression. Silencing Etv2 or Parpbp induces ER stress–mediated cell death in tuberin-deficient cells.
Shikshya Shrestha, Anthony Lamattina, Gustavo Pacheco-Rodriguez, Julie Ng, Xiaoli Liu, Abhijeet Sonawane, Jewel Imani, Weiliang Qiu, Kosmas Kosmas, Pierce Louis, Anne Hentschel, Wendy K Steagall, Rieko Onishi, Helen Christou, Elizabeth P Henske, Kimberly Glass, Mark A Perrella, Joel Moss, Kelan Tantisira, Souheil El-Chemaly   +19 more
doaj   +1 more source

Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex

Human Genomics, 2023
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder.
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda   +8 more
doaj   +1 more source