All Relations between Tuberous Sclerosis and mtor

Publication Sentence Publish Date Extraction Date Species
Amber M Goedken, Wesam W Ismail, Lucas D G Barrett, Lyndsay A Harshma. Kidney transplantation in patients with tuberous sclerosis complex. Pediatric transplantation. vol 28. issue 4. 2024-05-23. PMID:38778713. tuberous sclerosis complex (tsc) is a disorder of the mammalian target of the rapamycin (mtor) pathway associated with the development of multisystem tumors, including renal angiomyolipoma (aml). 2024-05-23 2024-05-27 Not clear
Louison Pineau, Emmanuelle Buhler, Sarah Tarhini, Sylvian Bauer, Valérie Crepel, Françoise Watrin, Carlos Cardoso, Alfonso Represa, Pierre Szepetowski, Nail Burnashe. Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N-methyl-D-aspartate receptors. Epilepsia. 2024-05-08. PMID:38717560. the mtoropathies are characterized by hyperactive mtor pathway and comprise tuberous sclerosis complex (tsc) and focal cortical dysplasia (fcd) type ii. 2024-05-08 2024-05-27 Not clear
Jingwen Zhan. Systematic review of mTOR inhibitor treatment, biomarkers and prophylaxis for tuberous sclerosis complex-associated seizures. Clinical medicine (London, England). vol 22 Suppl 4. 2024-04-13. PMID:38614585. systematic review of mtor inhibitor treatment, biomarkers and prophylaxis for tuberous sclerosis complex-associated seizures. 2024-04-13 2024-04-16 Not clear
Julia Schachenhofer, Victoria-Elisabeth Gruber, Stefanie Valerie Fehrer, Carmen Haider, Sarah Glatter, Ewa Liszewska, Romana Höftberger, Eleonora Aronica, Karl Rössler, Jacek Jaworski, Theresa Scholl, Martha Feuch. Targeting the EGFR pathway: An alternative strategy for the treatment of tuberous sclerosis complex? Neuropathology and applied neurobiology. vol 50. issue 2. 2024-04-02. PMID:38562027. tuberous sclerosis complex (tsc) is caused by variants in tsc1/tsc2, leading to constitutive activation of the mammalian target of rapamycin (mtor) complex 1. 2024-04-02 2024-04-04 Not clear
Konomi Shimoda, Hiroyuki Iwasaki, Yoko Mizuno, Masafumi Seki, Masakazu Mimaki, Motohiro Kato, Aya Shinozaki-Ushiku, Harushi Mori, Seishi Ogawa, Masashi Mizuguch. Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus. Frontiers in pediatrics. vol 12. 2024-03-08. PMID:38455392. case report: tuberous sclerosis complex-associated hemihypertrophy successfully treated with mtor inhibitor sirolimus. 2024-03-08 2024-03-10 Not clear
Vasiliki Karalis, Delaney Wood, Nicole A Teaney, Mustafa Sahi. The role of TSC1 and TSC2 proteins in neuronal axons. Molecular psychiatry. 2024-01-11. PMID:38212374. this complex primarily acts as an inhibitor of the mechanistic target of rapamycin (mtor) kinase, and mutations in either tsc1 or tsc2 cause a neurodevelopmental disorder called tuberous sclerosis complex (tsc). 2024-01-11 2024-01-14 Not clear
Shohra Qaderi, Ali Javinani, Yair J Blumenfeld, Eyal Krispin, Ramesha Papanna, Frank A Chervenak, Alireza A Shamshirsa. Mammalian target of rapamycin inhibitors: A new-possible approach for in-utero medication therapy. Prenatal diagnosis. 2024-01-04. PMID:38177082. while preliminary reports underscore the efficacy of mtor inhibitors for the treatment of fetal cr and fetal brain lesions associated with tuberous sclerosis complex, chylothorax, and lms, additional investigation and clinical trials are essential to comprehensively assess the safety and efficacy of these medications. 2024-01-04 2024-01-07 Not clear
Mark J Luinenburg, Mirte Scheper, Frederik N F Sørensen, Jasper J Anink, Wim Van Hecke, Irina Korshunova, Floor E Jansen, Kate Riney, Pieter van Eijsden, Peter Gosselaar, James D Mills, Rozemarijn S Kalf, Till S Zimmer, Diede W M Broekaart, Konstantin Khodosevich, Eleonora Aronica, Angelika Mühlebne. Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes. Frontiers in cellular neuroscience. vol 17. 2023-12-13. PMID:38089143. constitutive activation of the mtor pathway, as observed in tuberous sclerosis complex (tsc), leads to glial dysfunction and subsequent epileptogenesis. 2023-12-13 2023-12-17 Not clear
Mohammed Repon Khan, Xiling Yin, Sung-Ung Kang, Jaba Mitra, Hu Wang, Taekyung Ryu, Saurav Brahmachari, Senthilkumar S Karuppagounder, Yasuyoshi Kimura, Aanishaa Jhaldiyal, Hyun Hee Kim, Hao Gu, Rong Chen, Javier Redding-Ochoa, Juan Troncoso, Chan Hyun Na, Taekjip Ha, Valina L Dawson, Ted M Dawso. Enhanced mTORC1 signaling and protein synthesis in pathologic α-synuclein cellular and animal models of Parkinson's disease. Science translational medicine. vol 15. issue 724. 2023-12-01. PMID:38019930. pathologic α-synuclein was found to bind with the tuberous sclerosis protein 2 (tsc2) and to trigger the activation of the mammalian target of rapamycin (mtor) complex 1 (mtorc1), which augmented mrna translation and protein synthesis, leading to neurodegeneration. 2023-12-01 2023-12-07 mouse
Mohammed Repon Khan, Xiling Yin, Sung-Ung Kang, Jaba Mitra, Hu Wang, Taekyung Ryu, Saurav Brahmachari, Senthilkumar S Karuppagounder, Yasuyoshi Kimura, Aanishaa Jhaldiyal, Hyun Hee Kim, Hao Gu, Rong Chen, Javier Redding-Ochoa, Juan Troncoso, Chan Hyun Na, Taekjip Ha, Valina L Dawson, Ted M Dawso. Enhanced mTORC1 signaling and protein synthesis in pathologic α-synuclein cellular and animal models of Parkinson's disease. Science translational medicine. vol 15. issue 724. 2023-12-01. PMID:38019930. pathologic α-synuclein was found to bind with the tuberous sclerosis protein 2 (tsc2) and to trigger the activation of the mammalian target of rapamycin (mtor) complex 1 (mtorc1), which augmented mrna translation and protein synthesis, leading to neurodegeneration. 2023-11-29 2023-12-07 mouse
Şule Yeşil, Burçak Kurucu, Melda Berber Hamamcı, Şükriye Yılmaz, Gürses Şahi. Treatment of tuberous sclerosis complex manifestations in children with mTOR inhibitors. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 2023-11-10. PMID:37947859. treatment of tuberous sclerosis complex manifestations in children with mtor inhibitors. 2023-11-10 2023-11-20 Not clear
He Min, Linhua Yang, Xinsen Xu, Yajun Geng, Fatao Liu, Yingbin Li. SNHG15 promotes gallbladder cancer progression by enhancing the autophagy of tumor cell under nutrition stress. Cell cycle (Georgetown, Tex.). 2023-11-08. PMID:37937948. mechanistically, snhg15 could interact with ampk and facilitate the phosphorylation of ampk to tuberous sclerosis complex tsc2, resulting in mtor suppression and autophagy enhancement, and finally, conferring the gbc cell sustain proliferation under nutrition stress. 2023-11-08 2023-11-20 Not clear
Mengling Liu, Jiayou Ye, Xiaoling Yo. An updated meta-analysis of effectiveness and safety of mTOR inhibitors in the management of tuberous sclerosis complex patients. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 2023-10-31. PMID:37906297. an updated meta-analysis of effectiveness and safety of mtor inhibitors in the management of tuberous sclerosis complex patients. 2023-10-31 2023-11-08 Not clear
Rajal B Shah, Rohit Mehr. Renal Cell Carcinoma Associated With TSC/MTOR Genomic Alterations: An Update on its Expanding Spectrum and an Approach to Clinicopathologic Work-up. Advances in anatomic pathology. 2023-10-30. PMID:37899532. renal cell carcinoma (rcc) with tuberous sclerosis complex (tsc)/mammalian target of rapamycin (mtor) pathway-related genomic alterations have been classically described in hereditary tsc syndrome setting involving germline mutations, whereby cells with a bi-allelic inactivation of genes originate tumors in a classic tumor-suppressor "two-hit" knudson paradigm. 2023-10-30 2023-11-08 Not clear
Paolo Curatolo, Mirte Scheper, Leonardo Emberti Gialloreti, Nicola Specchio, Eleonora Aronic. Is tuberous sclerosis complex-associated autism a preventable and treatable disorder? World journal of pediatrics : WJP. 2023-10-25. PMID:37878130. tuberous sclerosis complex (tsc) is a genetic disorder caused by inactivating mutations in the tsc1 and tsc2 genes, causing overactivation of the mechanistic (previously referred to as mammalian) target of rapamycin (mtor) signaling pathway in fetal life. 2023-10-25 2023-11-08 Not clear
Muhammad Haseeb, Priyanka Sachdev, Mary Sravani, Chandana Tadigotla, Naga Anjani Bhaskar Srinivas Sunkara, Nikhil Gadyalpati. Malignant Perivascular Epithelioid Cell Neoplasm of Left Kidney Treated With Targeted Therapy: A Rare Case Report. Cureus. vol 15. issue 8. 2023-09-11. PMID:37692712. these tumors occur due to tuberous sclerosis complex gene mutations leading to upregulation and overexpression of the mammalian target of rapamycin (mtor). 2023-09-11 2023-10-07 Not clear
Aashil A Batavia, Dorothea Rutishauser, Bettina Sobottka, Peter Schraml, Niko Beerenwinkel, Holger Moc. Biallelic ELOC-Inactivated Renal Cell Carcinoma: Molecular Features Supporting Classification as a Distinct Entity. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. vol 36. issue 8. 2023-08-21. PMID:37088333. eloc-mutated (elongin c-mutated) renal cell carcinoma containing biallelic eloc inactivations with chromosome 8q deletions is considered a novel subtype of renal cancer possessing a morphologic overlap with ccrcc, renal cell carcinoma (rcc) with fibromyomatous stroma exhibiting tuberous sclerosis complex (tsc)/mammalian target of rapamycin (mtor) mutations, and clear cell papillary tumor. 2023-08-21 2023-09-07 Not clear
Gurneel K Dhanesar, Harish Rengarajan, Baidarbhi Chakrabort. Malignant Perivascular Epithelioid Cell Tumor of the Uterus. Cureus. vol 15. issue 7. 2023-08-14. PMID:37575749. they belong to the family of mesenchymal tumors and include angiomyolipomas, clear cell sugar tumors of the lung, and pecomas not otherwise specified (nos). tuberous sclerosis complex 1 (tsc1) and tuberous sclerosis complex 2 (tsc2) gene mutation is associated with pecoma, which causes hyperactivation of the mammalian target of rapamycin (mtor) signaling pathway. 2023-08-14 2023-08-16 Not clear
Konstantinos Melanis, Maria-Ioanna Stefanou, Konstantinos M Themistoklis, Themistoklis Papasileka. mTOR pathway - a potential therapeutic target in stroke. Therapeutic advances in neurological disorders. vol 16. 2023-08-14. PMID:37576547. mtor is a serine/threonine kinase that composes two protein complexes, mtor complex 1 (mtorc1) and mtor complex 2 (mtorc2), and is regulated by other proteins such as the tuberous sclerosis complex. 2023-08-14 2023-08-16 Not clear
Roberto Previtali, Giorgia Prontera, Enrico Alfei, Luisa Nespoli, Silvia Masnada, Pierangelo Veggiotti, Savina Mannarin. Paradigm shift in the treatment of tuberous sclerosis: effectiveness of everolimus. Pharmacological research. 2023-08-07. PMID:37549757. tuberous sclerosis complex is caused by the disinhibition of the protein mtor (mammalian target of rapamycin). 2023-08-07 2023-08-14 Not clear