Results 41 to 50 of about 25,279 (224)

Upregulation of acid ceramidase contributes to tumor progression in tuberous sclerosis complex

JCI Insight, 2023
Tuberous sclerosis complex (TSC) is characterized by multisystem, low-grade neoplasia involving the lung, kidneys, brain, and heart. Lymphangioleiomyomatosis (LAM) is a progressive pulmonary disease affecting almost exclusively women.
Aristotelis Astrinidis, Chenggang Li, Erik Y. Zhang, Xueheng Zhao, Shuyang Zhao, Minzhe Guo, Tasnim Olatoke, Ushodaya Mattam, Rong Huang, Alan G. Zhang, Lori Pitstick, Elizabeth J. Kopras, Nishant Gupta, Roman Jandarov, Eric P. Smith, Elizabeth Fugate, Diana Lindquist, Maciej M. Markiewski, Magdalena Karbowniczek, Kathryn A. Wikenheiser-Brokamp, Kenneth D. R. Setchell, Francis X. McCormack, Yan Xu, Jane J. Yu   +23 more
doaj   +1 more source

Starvation-induced suppression of DAZAP1 by miR-10b integrates splicing control into TSC2-regulated oncogenic autophagy in esophageal squamous cell carcinoma

Theranostics, 2020
Esophageal squamous cell carcinoma (ESCC) accounts for about 90% of all incident esophageal cancers, with a 5-year survival rate of < 20%. Autophagy is of particular importance in cancers; however, the detailed regulatory mechanisms of oncogenic ...
Yun Chen, Yan Lu, Yanli Ren, Jupeng Yuan, Nasha Zhang, Hannah Kimball, Liqing Zhou, Ming Yang   +7 more
semanticscholar   +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

Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer.

PLoS ONE, 2021
Inactivating mutations in either TSC1 or TSC2 cause Tuberous Sclerosis Complex, an autosomal dominant disorder, characterized by multi-system tumor and hamartoma development.
Evelyn M Mrozek, Vineeta Bajaj, Yanan Guo, Izabela A Malinowska, Jianming Zhang, David J Kwiatkowski   +5 more
doaj   +1 more source

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants

Scientific Reports, 2020
The aim of this study was to improve knowledge of the mutational spectrum causing tuberous sclerosis complex (TSC) in a sample of Mexican patients, given the limited information available regarding this disease in Mexico and Latin America. Four different
M. Reyna-Fabián, N. Hernández-Martínez, M. Alcántara-Ortigoza, J. Ayala-Sumuano, Sergio Enríquez-Flores, J. Velázquez-Aragón, A. Varela-Echavarría, C. Todd-Quiñones, A. González-del Angel   +8 more
semanticscholar   +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

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

Scientific Reports, 2020
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in the skin and other organs, including brain, heart, lung, kidney and bones. TSC is caused by mutations in TSC1 and TSC2.
T. Rosengren, Santoesha Nanhoe, Luís De Almeida, B. Schönewolf-Greulich, L. Larsen, C. A. B. Hey, M. Duno, J. Ek, L. Risom, M. Nellist, L. Møller   +10 more
semanticscholar   +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

Ablation of TSC2 enhances insulin secretion by increasing the number of mitochondria through activation of mTORC1. [PDF]

PLoS ONE, 2011
AIM:We previously found that chronic tuberous sclerosis protein 2 (TSC2) deletion induces activation of mammalian target of rapamycin Complex 1 (mTORC1) and leads to hypertrophy of pancreatic beta cells from pancreatic beta cell-specific TSC2 knockout ...
Maki Koyanagi, Shun-ichiro Asahara, Tomokazu Matsuda, Naoko Hashimoto, Yutaka Shigeyama, Yuki Shibutani, Ayumi Kanno, Megumi Fuchita, Tomoko Mikami, Tetsutya Hosooka, Hiroshi Inoue, Michihiro Matsumoto, Masato Koike, Yasuo Uchiyama, Tetsuo Noda, Susumu Seino, Masato Kasuga, Yoshiaki Kido   +17 more
doaj   +1 more source

p38 regulates the tumor suppressor PDCD4 via the TSC-mTORC1 pathway

Cell Stress, 2021
Programmed cell death protein 4 (PDCD4) exerts critical functions as tumor suppressor and in immune cells to regulate inflammatory pro-cesses. The phosphoinositide 3-kinase (PI3K) promotes degradation of PDCD4 via mammalian target of rapamycin complex 1 (
Clarissa Braun, Karl Katholnig, Christopher Kaltenecker, Monika Linke, Nyamdelger Sukhbaatar, Markus Hengstschläger, Thomas Weichhart   +6 more
doaj   +1 more source