All Relations between Tuberous Sclerosis and tsc2

Publication Sentence Publish Date Extraction Date Species
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. tuberous sclerosis complex 1 and 2 proteins, tsc1 and tsc2 respectively, participate in a multiprotein complex with a crucial role for the proper development and function of the nervous system. 2024-01-11 2024-01-14 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
Nicola Alesi, Damir Khabibullin, Dean M Rosenthal, Elie W Akl, Pieter M Cory, Michel Alchoueiry, Samer Salem, Melissa Daou, William F Gibbons, Jennifer A Chen, Long Zhang, Harilaos Filippakis, Laura Graciotti, Caterina Miceli, Jlenia Monfregola, Claudia Vilardo, Manrico Morroni, Chiara Di Malta, Gennaro Napolitano, Andrea Ballabio, Elizabeth P Hensk. TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex. Nature communications. vol 15. issue 1. 2024-01-09. PMID:38195686. tuberous sclerosis complex (tsc) is caused by tsc1 or tsc2 mutations, leading to hyperactivation of mechanistic target of rapamycin complex 1 (mtorc1) and lesions  in multiple organs including lung (lymphangioleiomyomatosis) and kidney (angiomyolipoma and renal cell carcinoma). 2024-01-09 2024-01-13 mouse
Michał Sobstyl, Paweł Jezierski, Magdalena Konopko, Angelika Stapińska-Synie. Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus. Epilepsy & behavior reports. vol 25. 2023-12-28. PMID:38152567. tuberous sclerosis complex (tsc) is an autosomal dominant disorder caused by mutations in the tumor suppressor genes tsc1 or tsc2. 2023-12-28 2023-12-30 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
D Mammadova, J Vecko, M Hofmann, S C Schüssler, L Deiters, A Canda, A K Wieland, S Gollwitzer, H Hamer, Regina Trollman. A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex. Orphanet journal of rare diseases. vol 18. issue 1. 2023-11-10. PMID:37946245. tuberous sclerosis complex (tsc) is a rare multisystem disorder caused by mutations in the tsc1 or tsc2 gene. 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
Inci S Aksoylu, Pauline Martin, Francis Robert, Krzysztof J Szkop, Nicholas E Redmond, Srirupa Bhattacharyya, Jennifer Wang, Shan Chen, Roberta L Beauchamp, Irene Nobeli, Jerry Pelletier, Ola Larsson, Vijaya Rames. Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations. Molecular autism. vol 14. issue 1. 2023-10-26. PMID:37880800. tuberous sclerosis complex (tsc) is an inherited neurocutaneous disorder caused by mutations in the tsc1 or tsc2 genes, with patients often exhibiting neurodevelopmental (nd) manifestations termed tsc-associated neuropsychiatric disorders (tand) including autism spectrum disorder (asd) and intellectual disability. 2023-10-26 2023-11-08 Not clear
Georgios Papageorgiou, Nikolaos Skouteris, Christos Valavanis, Gabriela-Monica Stanc, Efthymia Souka, Nikolaos Charalampaki. Identification of a Novel TSC2 c.170G>A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations. Reviews on recent clinical trials. 2023-10-25. PMID:37877150. identification of a novel tsc2 c.170g>a missense variant: a case report and elaboration on the yield of targeted options against tuberous sclerosis complex manifestations. 2023-10-25 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
Stephanie Deborah Fritsch, Nyamdelger Sukhbaatar, Karine Gonzales, Alishan Sahu, Loan Tran, Andrea Vogel, Mario Mazic, Jayne Louise Wilson, Stephan Forisch, Hannah Mayr, Raimund Oberle, Jakob Weiszmann, Martin Brenner, Roeland Vanhoutte, Melanie Hofmann, Sini Pirnes-Karhu, Christoph Magnes, Torben Kühnast, Wolfram Weckwerth, Christoph Bock, Kristaps Klavins, Markus Hengstschläger, Christine Moissl-Eichinger, Gernot Schabbauer, Gerda Egger, Eija Pirinen, Steven H L Verhelst, Thomas Weichhar. Metabolic support by macrophages sustains colonic epithelial homeostasis. Cell metabolism. 2023-10-07. PMID:37804836. specifically, deletion of tuberous sclerosis complex 2 (tsc2) in macrophages activated mtorc1 signaling that protected against colitis-induced intestinal damage and induced the synthesis of the polyamines spermidine and spermine. 2023-10-07 2023-10-15 mouse
Chirag H Patel, Yi Dong, Navid Koleini, Xiaoxu Wang, Brittany L Dunkerly-Eyring, Jiayu Wen, Mark J Ranek, Laura M Bartle, Daniel B Henderson, Jason G Sagert, David A Kass, Jonathan D Powel. TSC2 S1365A mutation potently regulates CD8+T cell function and differentiation improving adoptive cellular cancer therapy. JCI insight. 2023-10-03. PMID:37788104. tsc2 in the tuberous sclerosis complex tightly regulates mtorc1 activation. 2023-10-03 2023-10-07 human
Ashwini Sri Hari, Rajeswari Banerji, Li-Ping Liang, Ruth E Fulton, Christopher Quoc Huynh, Timothy Fabisiak, Pallavi Bhuyan McElroy, James R Roede, Manisha Pate. Increasing glutathione levels by a novel posttranslational mechanism inhibits neuronal hyperexcitability. Redox biology. vol 67. 2023-10-01. PMID:37769522. furthermore, bso-mediated gsh depletion oxidatively modified the tuberous sclerosis protein complex (tsc) consisting of hamartin (tsc1), tuberin (tsc2), and tbc1 domain family member 7 (tbc1d7) which are critical negative regulators of mtorc1. 2023-10-01 2023-10-07 zebrafish
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
Sameer C Dhamne, Meera E Modi, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge, Lahin Lalani, Chloe E Super, Samantha Schaeffer, Ketthsy Capre, Danuta Lubicka, Guiqing Liang, Doug Burdette, Stephanie M McTighe, Sarika Gurnani, Sheryl Anne D Vermudez, Daniel Curtis, Christopher J Wilson, Mustafa Q Hameed, Angelica D'Amore, Alexander Rotenberg, Mustafa Sahi. Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor. Annals of clinical and translational neurology. 2023-08-07. PMID:37545094. tuberous sclerosis complex (tsc) is a neurodevelopmental disorder caused by autosomal-dominant pathogenic variants in either the tsc1 or tsc2 gene, and it is characterized by hamartomas in multiple organs, such as skin, kidney, lung, and brain. 2023-08-07 2023-08-14 mouse
Marjan Taherian, Paria Bayati, Mohammad-Ali Assarehzadegan, Mansoureh Soleimani, Hadi Poormoghim, Nazanin Mojtabav. Insights into Overlappings of Fibrosis and Cancer: Exploring the Tumor-related Cardinal Genes in Idiopathic Pulmonary Fibrosis. Iranian journal of allergy, asthma, and immunology. vol 22. issue 2. 2023-07-27. PMID:37496412. gene expression analyses indicated a significant elevation of regulatory associated protein of mtor (raptor), ras homolog enriched in brain (rheb), s6 kinase 1, and eukaryotic translation initiation factor 4e-binding protein 1 (4ebp1), as well as a significant reduction of vegfa, tuberous sclerosis complex (tsc2), and lrp1; no changes were observed in the tsc1 mrna level. 2023-07-27 2023-08-14 mouse
Fang Qiu, Yun Luo, An-Ting Zhan, Fang-Gu Li, Yi-Ming Fa. Solitary scalp folliculocystic and collagen hamartoma caused by c.2353C>T TSC2 somatic mutation in a sporadic case of tuberous sclerosis complex with calvarial fibrous dysplasia. European journal of dermatology : EJD. vol 33. issue 2. 2023-07-11. PMID:37431128. solitary scalp folliculocystic and collagen hamartoma caused by c.2353c>t tsc2 somatic mutation in a sporadic case of tuberous sclerosis complex with calvarial fibrous dysplasia. 2023-07-11 2023-08-14 Not clear
Erin Gibbons, Briaunna M N Minor, Stephen R Hamme. Lymphangioleiomyomatosis: where endocrinology, immunology and tumor biology meet. Endocrine-related cancer. 2023-07-06. PMID:37410387. lymphangioleiomyomatosis (lam) is a cystic lung disease found almost exclusively in genetic females and caused by small clusters of smooth muscle cell tumors containing mutations in one of the two tuberous sclerosis genes (tsc1 or tsc2). 2023-07-06 2023-08-14 Not clear
Pooja Navale, Deyali Chatterjee, Malak Itani, Nikolaos A Trikalino. Tuberous sclerosis complex mutations in patients with pancreatic neuroendocrine tumors. Observations on phenotypic and treatment-related associations. Virchows Archiv : an international journal of pathology. 2023-06-24. PMID:37354253. pancreatic neuroendocrine tumors (pannets) in familial tuberous sclerosis (tsc1 and tsc2 mutations) have been known and studied. 2023-06-24 2023-08-14 Not clear