Results 21 to 30 of about 5,403,298 (185)

The TSC Complex-mTORC1 Axis: From Lysosomes to Stress Granules and Back

Frontiers in Cell and Developmental Biology, 2021
The tuberous sclerosis protein complex (TSC complex) is a key integrator of metabolic signals and cellular stress. In response to nutrient shortage and stresses, the TSC complex inhibits the mechanistic target of rapamycin complex 1 (mTORC1) at the ...
Ulrike Rehbein, Mirja Tamara Prentzell, Mirja Tamara Prentzell, Marti Cadena Sandoval, Marti Cadena Sandoval, Alexander Martin Heberle, Alexander Martin Heberle, Elizabeth P. Henske, Christiane A. Opitz, Christiane A. Opitz, Kathrin Thedieck, Kathrin Thedieck, Kathrin Thedieck   +12 more
doaj   +1 more source

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM [PDF]

, 2023
Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC ...
Luijten, Michiel A. J., van Eeghen, Agnies M., de Wit, Marie-Claire, Haverman, Lotte, Capal, Jamie K., Müller, Annelieke R., Rietman, André B., Gipson, Tanjala, Jansen, Anna C., de Vries, Petrus J., Janssens, Peter, de Graaff, Laura C. G., de Ranitz-Greven, Wendela L., Hoopen, Leontine W.ten   +13 more
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Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus

Pharmacological Research, 2023
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by abnormal cell proliferation and differentiation that affects multiple organs and can lead to the growth of hamartomas.
Roberto Previtali, Giorgia Prontera, Enrico Alfei, Luisa Nespoli, Silvia Masnada, Pierangelo Veggiotti, Savina Mannarino   +6 more
doaj   +1 more source

Missed tuberous sclerosis complex with multi-system complications in a single patient

Radiology Case Reports, 2022
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread clinical manifestations. Early diagnosis is usually possible when typical TSC related skin lesions and neurologic presentations are detected in young patients.
Shu Syi Lim, MBBS, Muhammad Zahid Abdul Muien, MD, DrRad, Shaun Darren Aeria, MBBS, MRad, Chiak Yot Ng, MBBS, MMed(Rad), Yong Guang Teh, MD, DrRad   +4 more
doaj   +1 more source

RHOA signaling defects result in impaired axon guidance in iPSC-derived neurons from patients with tuberous sclerosis complex

Nature Communications, 2021
Patients with Tuberous Sclerosis Complex (TSC) show aberrant wiring of neuronal connections. Here, the authors generate iPSC-derived neurons from patients with TSC. TSC2 +/− neurons show impaired mTOR-independent RhoA signaling-mediated axon guidance.
Timothy S. Catlett, Massimo M. Onesto, Alec J. McCann, Sarah K. Rempel, Jennifer Glass, David N. Franz, Timothy M. Gómez   +6 more
doaj   +1 more source

A Rare Case of Tuberous Sclerosis with Giant Cell Astrocytoma

Journal of Rawalpindi Medical College, 2022
Tuberous sclerosis complex (TSC) is a neurocutaneous disease inherited in an autosomal dominant pattern with variable penetration. This case report is of a 12-year-old boy who presented with complaints of headache, vomiting, and fits. His neurocutaneous
Sidra Masood, Mudassar Sharif Bhatti
doaj   +1 more source

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) [PDF]

, 2021
Manifestación rara; Tosca; Complejo de esclerosis tuberosaManifestació rara; Tosca; Complex d'esclerosi tuberosaRare manifestation; Tosca; Tuberous sclerosis complexBackground Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant ...
Perkovic Benedik, Mirjana, Curatolo, Paolo, Cottin, Vincent, Sauter, Matthias, Macaya Ruíz, Alfons, Carter, Tom, Belousova, Elena   +6 more
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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex [PDF]

, 2009
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues.
Povey, S, Ekong, Rosemary, David Kwiatkowski, Ans van den Ouweland, Nellist Mark, Halley Dicky, Povey Sue, Sampson, J. (Julian), Povey, S. (Sue), Kwiatkowski, D. (David), Melika Mozaffari, Sampson, Julian Roy, Halley, D, Sampson Julian, Dunnen, JT, Ekong Rosemary, Ekong, R, Nellist, Mark, Sampson, J, van den Ouweland, Ans, Dunnen, J.T. (Johan) den, Dicky Halley, van den Ouweland Ans, Hoogeveen-Westerveld, M. (Marianne), Halley, Dicky, Halley, D.J.J. (Dicky), den Dunnen, Johan T., Johan T den Dunnen, Rosemary Ekong, Sue Povey, Ekong, R. (Rosemary), Nellist, M.D. (Mark), Hoogeveen-Westerveld, M, Ouweland, A.M.W. (Ans) van den, Hoogeveen - Westerveld, Marianne, Mark Nellist, Nellist, M, Povey, Sue, den Dunnen Johan T, Mozaffari, M, Kwiatkowski, David, Kwiatkowski, D, Mozaffari Melika, Julian Sampson, Mozaffari, E. (Melika), Hoogeveen-Westerveld Marianne, van den Ouweland, A, Marianne Hoogeveen-Westerveld, Mozaffari, Melika, Kwiatkowski David, den Dunnen, JT, Hoogeveen-Westerveld, Marianne   +51 more
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Neuroendocrine pancreatic tumor in a patient with dual diagnosis of tuberous sclerosis complex and basement membrane disease: A case report and review of the literature

Radiology Case Reports, 2021
Tuberous Sclerosis is a complex genetic disease that has well-defined clinical criteria. These criteria don't include pancreatic neuroendocrine tumors.
Saba Kopadze, MD, Inga Shoshiashvili, MD, Anna Dumbadze, MD, Tinatin Tkemaladze, PHD, Ivane Kiladze, MD   +4 more
doaj   +1 more source

Regulation of the mammalian target of rapamycin complex 2 (mTORC2) [PDF]

, 2006
The growth controlling mammalian Target of Rapamycin (mTOR) is a conserved Ser/Thr kinase found in two structurally and functionally distinct complexes, mTORC1 and mTORC2.
Molle, Klaus-Dieter
core   +1 more source