Results 81 to 90 of about 25,279 (224)

mTOR/miR-142-3p/PRAS40 signaling cascade is critical for tuberous sclerosis complex-associated renal cystogenesis

Cellular & Molecular Biology Letters
Background Patients with tuberous sclerosis complex (TSC) develop renal cysts and/or angiomyolipomas (AMLs) due to inactive mutations of either TSC1 or TSC2 and consequential mTOR hyperactivation.
Shuyun Zhao, Shuai Hao, Jiasheng Zhou, Xinran Chen, Tianhua Zhang, Zhaolai Qi, Ting Zhang, Sajid Jalal, Chuanxin Zhai, Lu Yin, Yufei Bo, Hongming Teng, Yue Wang, Dongyan Gao, Hongbing Zhang, Lin Huang   +15 more
doaj   +1 more source

Heterozygous inactivation of tsc2 enhances tumorigenesis in p53 mutant zebrafish

Disease Models & Mechanisms, 2013
SUMMARY Tuberous sclerosis complex (TSC) is a multi-organ disorder caused by mutations of the TSC1 or TSC2 genes. A key function of these genes is to inhibit mTORC1 (mechanistic target of rapamycin complex 1) kinase signaling. Cells deficient for TSC1 or
Seok-Hyung Kim, Marie L. Kowalski, Robert P. Carson, L. Richard Bridges, Kevin C. Ess   +4 more
doaj   +1 more source

Tumor‐related epilepsy in glioma: A multidisciplinary overview

Epilepsia, EarlyView.
Abstract Seizures are a common and challenging symptom in brain tumors, affecting approximately 60% of patients. Tumor‐related epilepsy (TRE) in glioma patients requires personalized and dynamic management in a multidisciplinary environment, especially for its intricate pathophysiology and unpredictable disease evolution. This investigation provides an
Roberto Michelucci, Giada Pauletto, Antonio Silvani, Elena Pasini, Tamara Ius, Matteo Martinoni, Carlo Alberto Castioni, Andrea Salmaggi, Sofia Asioli, Marta Maschio, Giuseppe Minniti, Enrico Franceschi, Flavio Villani, Roberta Rudà, Eleonora Aronica, the Italian Multidisciplinary Group for Tumor Epilepsy, Paolo Vitali, Damiano Balestrini, Elisa D’Angelo, Lorenzo Bello, Marco Rossi, Marta Padovan, Anna Teresa Giallonardo, Carlo di Bonaventura, Francesco Toni, Angela La Neve, Simona Rizzato, Matteo Pugnaghi, Marco Vindigni, Carmelo Sturiale   +29 more
wiley   +1 more source

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

Genetics and Molecular Biology, 2017
Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor
C. Rosset, C. Netto, P. Ashton-Prolla
semanticscholar   +1 more source

PI5P4K inhibitors: promising opportunities and challenges

The FEBS Journal, EarlyView.
Developing inhibitors is like climbing a steep, challenging mountain. PI5P4K inhibitors hold significant promise for the treatment of cancer, immune disorders, and neurological diseases. However, the path to success is fraught with hurdles, and researchers are therefore required to apply their expertise to overcome critical “checkpoints.” While some ...
Koh Takeuchi, Lisa Nagase, Shun Kageyama, Hirotaka Kanoh, Masashi Oshima, Aki Ogawa‐Iio, Yoshiki Ikeda, Yuki Fujii, Sei Kondo, Natsuki Osaka, Takeshi Masuda, Tsukasa Ishihara, Yoshikazu Nakamura, Yoshihisa Hirota, Takehiko Sasaki, Toshiya Senda, Atsuo T. Sasaki   +16 more
wiley   +1 more source

Control of TSC2-Rheb signaling axis by arginine regulates mTORC1 activity

eLife, 2016
The mammalian target of rapamycin complex 1 (mTORC1) is the key signaling hub that regulates cellular protein homeostasis, growth, and proliferation in health and disease.
Bernadette Carroll, D. Maetzel, O. Maddocks, Gisela Otten, M. Ratcliff, Graham R. Smith, E. Dunlop, J. Passos, O. Davies, R. Jaenisch, A. Tee, Sovan Sarkar, V. Korolchuk   +12 more
semanticscholar   +1 more source

Genetic alterations in hepatocellular carcinoma after sustained virological response in relation to the molecular characterization of metabolic diseases

Hepatology Research, EarlyView.
Hepatocellular carcinoma (HCC) in the hepatitis C virus (HCV)‐sustained virologic response (SVR) group was associated with alcohol consumption and metabolic diseases and showed significantly lower rates of ARID2 alterations and AXIN1 alterations compared to the HCV‐non‐SVR group, with a mutational profile resembling that of the steatotic liver disease ...
Fukiko Kawai‐Kitahata, Yasuhiro Asahina, Sei Kakinuma, Kento Inada, Tomohiro Mochida, Keiya Watakabe, Tsubasa Nobusawa, Taro Shimizu, Jun Tsuchiya, Masato Miyoshi, Shun Kaneko, Miyako Murakawa, Sayuri Nitta, Mina Nakagawa, Yuko Kinowaki, Daisuke Ban, Shinji Tanaka, Tatsuhiko Anzai, Shinichi Takano, Shinya Maekawa, Nobuyuki Enomoto, Ryuichi Okamoto   +21 more
wiley   +1 more source

Lysosomal recruitment of TSC2 is a universal response to cellular stress

Nature Communications, 2016
mTORC1 promotes cell growth and is therefore inactivated upon unfavourable growth conditions. Signalling pathways downstream of most cellular stresses converge on TSC1/2, which serves as an integration point that inhibits mTORC1.
C. Demetriades, M. Plescher, A. Teleman
semanticscholar   +1 more source

Renal cell carcinoma with fibromyomatous stroma (RCC FMS) and with hemangioblastoma‐like areas is part of the RCC FMS spectrum in patients with tuberous sclerosis complex

Histopathology, EarlyView.
We report on three patients with Tuberous Sclerosis Complex (TSC) who had renal cell carcinomas with fibromyomatous stroma (RCC FMS), demonstrating a coexistent haemangioblastoma (HB)‐like morphology. Our findings support the conclusion that HB‐like features are part of the spectrum of RCC FMS with TSC/MTOR alterations.
Katherina Baranova, Jacob A Houpt, Deaglan Arnold, Andrew A House, Laura Lockau, Lindsay Ninivirta, Stephen Pautler, Haiying Chen, Madeleine Moussa, Rola Saleeb, Jose A Gomez, Asli Yilmaz, Farshid Siadat, Adrian Box, Douglas J Mahoney, Franz J Zemp, Manal Gabril, Kiril Trpkov   +17 more
wiley   +1 more source

Long non-coding RNA MALAT1 enhances the apoptosis of cardiomyocytes through autophagy inhibition by regulating TSC2-mTOR signaling

Biological Research, 2019
Our previous study showed that knockdown of long noncoding RNA (lncRNA) metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) attenuated myocardial apoptosis in mouse acute myocardial infarction (AMI).
Hao Hu, Jiawei Wu, Xiaofan Yu, Jun-ling Zhou, Hua Yu, Likun Ma   +5 more
semanticscholar   +1 more source