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Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations. [PDF]

Sci Rep
Praticò AD, Di Napoli C, Salafia S, Dammino E, Piccione M, Calì F, Scifo R, Vecchio M, Zonta A, Bonsignore M, Elia M, Lo Bianco M, Polizzi A, Ruggieri M.   +13 more
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TSC2 alterations in anaplastic ependymoma progression to ependymosarcoma

Clinical Neuropathology, 2020
Ependymosarcomas are rare, biphasic tumors composed of ependymal and sarcomatous components. Due to their rarity, their biologic basis is not well understood. We report the case of a 38-year-old male with anaplastic ependymoma (WHO grade III) that progressed to ependymosarcoma in less than 2 years after multiple resections, chemoradiotherapy, and anti ...
Elisabet, Pujadas, Liam, Chen, Jon D, Weingart, Brent, Orr, Bryam H, Ozer, Matthias, Holdhoff, Fausto J, Rodriguez   +6 more
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Akt regulates growth by directly phosphorylating Tsc2

Nature Cell Biology, 2002
The direct mechanism by which the serine/threonine kinase Akt (also known as protein kinase B (PKB)) regulates cell growth is unknown. Here, we report that Drosophila melanogaster Akt/PKB stimulates growth by phosphorylating the tuberous sclerosis complex 2 (Tsc2) tumour suppressor and inhibiting formation of a Tsc1-Tsc2 complex.
Christopher J, Potter, Laura G, Pedraza, Tian, Xu   +2 more
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Evolution of the TSC1/TSC2-TOR Signaling Pathway

Science Signaling, 2010
The TSC1/TSC2-TOR signaling pathway evolved from a primitive signaling pathway linking adenosine monophosphate abundance to cell growth.
Jaco, Serfontein, R Ellen R, Nisbet, Christopher J, Howe, Petrus J, de Vries   +3 more
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Measurements of TSC2 GAP Activity Toward Rheb

2006
Tuberous sclerosis complex (TSC) is a genetic disease caused by mutation in either the tsc1 or tsc2 tumor suppressor genes. TSC1 and TSC2 protein form a physical and functional complex in vivo. Recent studies have demonstrated that TSC2 displays GTPase activating protein (GAP) activity specifically toward the small G protein Rheb (Ras homolog enriched ...
Yong, Li, Ken, Inoki, Haris, Vikis, Kun-Liang, Guan   +3 more
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Analysis of the TSC2 gene in human medulloblastoma

Acta Neuropathologica, 2001
Medulloblastoma (MB) represents the most frequent malignant brain tumor of childhood. Recent studies have shown that deregulation of developmental control genes may play an important role in its pathogenesis. Tuberous sclerosis is associated with hamartomas and cortical tubers, consisting of both glial and neuronal cellular components.
R, Przkora, B, Meyer-Puttlitz, O, Schmitt, F, Berthold, M, Nöthen, J, Krauss, J C, Tonn, A, von Deimling, O D, Wiestler, T, Pietsch   +9 more
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TSC2/PKD1 Contiguous Gene Deletion Syndrome

Clinical Pediatrics, 2023
Javier Arredondo Montero, Mónica Bronte Anaut, María Velayos, María del Carmen Sarmiento, Carla Ramírez Amorós, Pedro López-Pereira   +5 more
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The TSC2 Gene and Tuberin

1999
Abstract When a novel gene such as TSC2 is identified, a fundamental point in the associated disease process is defined. Using the gene as a resource, many areas of research can move from descriptive to experimental phases. Analysis of the sequence of the predicted protein product may reveal clues to the molecular and cellular processes ...
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Mild Expression in Familial TSC2

2004
BACKGROUND: TS is an autosomal dominant disorder characterized by hamartomata in various organs, including the brain, and caused by mutations in the TSC1 (9q34) or TSC2 (16p13) genes. The disease phenotype was found to be more severe in sporadic TSC2 patients (Dabora et al, 2001).
Badhwar, Amanpreet, D'agostino, Md, Jansen, Anna, Gobbi, G., Wilkinson, R., Melanson, Denis, Koenekoop, R., Gans, M., Li, G., Seni, H., Tampieri, Donatella, Andermann, Frederick, Dubeau, François, Pandolfo, M., Kwiatkowski, David, Andermann, E   +15 more
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Neural Development in tsc2-Deficient Zebrafish

2011
Abstract : This DOD-funded project Neural Development in tsc2-deficient zebrafish has made excellent progress over the first year of funding. We have essentially completed Task 1 of our Statement of Work with a focus on Neural Development. We have also begun Task 2 determining cell autonomous phenotypes. Using this zebrafish model of tuberous sclerosis
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