Tuberous sclerosis complex: From molecular biology to novel therapeutic approaches

K Switon, K Kotulska, A JanuszKaminska… - IUBMB …, 2016 - Wiley Online Library
Tuberous sclerosis complex (TSC) is a rare multisystem disorder, primary manifestations of
which are benign tumors and lesions in various organs of the body, including the brain. TSC …

[HTML][HTML] Inhibition of the mechanistic target of rapamycin induces cell survival via MAPK in tuberous sclerosis complex

Y Lu, EY Zhang, J Liu, JJ Yu - Orphanet journal of rare diseases, 2020 - Springer
Background Tuberous sclerosis complex (TSC) is a genetic disorder that cause tumors to
form in many organs. These lesions may lead to epilepsy, autism, developmental delay …

[HTML][HTML] Revisiting brain tuberous sclerosis complex in rat and human: shared molecular and cellular pathology leads to distinct neurophysiological and behavioral …

V Kútna, VB O'Leary, E Newman, C Hoschl… - …, 2021 - Elsevier
Tuberous sclerosis complex (TSC) is a dominant autosomal genetic disorder caused by loss-
of-function mutations in TSC1 and TSC2, which lead to constitutive activation of the …

Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex

CL Salussolia, K Klonowska… - Annual Review of …, 2019 - annualreviews.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the …

The tuberous sclerosis complex

KA Orlova, PB Crino - Annals of the New York Academy of …, 2010 - Wiley Online Library
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from
mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in …

Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex

JP MacKeigan, DA Krueger - Neuro-oncology, 2015 - academic.oup.com
Tuberous sclerosis complex (TSC) is a genetic autosomal dominant disorder characterized
by benign tumor-like lesions, called hamartomas, in multiple organ systems, including the …

Mechanism-based treatment in tuberous sclerosis complex

K Jülich, M Sahin - Pediatric neurology, 2014 - Elsevier
Background Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that affects
the brain in almost every patient. It is caused by a mutation in the TSC1 or TSC2 genes …

Recent advances and challenges of mTOR inhibitors use in the treatment of patients with tuberous sclerosis complex

F Palavra, C Robalo, F Reis - Oxidative medicine and cellular …, 2017 - Wiley Online Library
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of
benign, noninvasive, and tumorlike lesions called hamartomas that can affect multiple …

Tuberous sclerosis complex

DM Hasbani, PB Crino - Handbook of clinical neurology, 2018 - Elsevier
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem
disorder that results from mutations in either TSC1 or TSC2. The primary organs affected …

[HTML][HTML] mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders

DN Franz, JK Capal - Orphanet journal of rare diseases, 2017 - Springer
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects
multiple organ systems throughout the body. Dysregulation of the mammalian target of …