[HTML][HTML] The neurology of mTOR

JO Lipton, M Sahin - Neuron, 2014 - cell.com
The mechanistic target of rapamycin (mTOR) signaling pathway is a crucial cellular
signaling hub that, like the nervous system itself, integrates internal and external cues to …

Neurological and neuropsychiatric aspects of tuberous sclerosis complex

P Curatolo, R Moavero, PJ de Vries - The Lancet Neurology, 2015 - thelancet.com
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy

E Aronica, N Specchio, MJ Luinenburg, P Curatolo - Brain, 2023 - academic.oup.com
Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic
process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and …

[HTML][HTML] Myelin lipid metabolism and its role in myelination and myelin maintenance

JA Barnes-Vélez, FBA Yasar, J Hu - The Innovation, 2023 - cell.com
Myelin is a specialized cell membrane indispensable for rapid nerve conduction. The high
abundance of membrane lipids is one of myelin's salient features that contribute to its unique …

[HTML][HTML] Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity

JM Peters, M Taquet, C Vega, SS Jeste, IS Fernández… - BMC medicine, 2013 - Springer
Background Graph theory has been recently introduced to characterize complex brain
networks, making it highly suitable to investigate altered connectivity in neurologic disorders …

[HTML][HTML] Sensitive periods for cerebellar-mediated autistic-like behaviors

PT Tsai, S Rudolph, C Guo, J Ellegood, JM Gibson… - Cell reports, 2018 - cell.com
Despite a prevalence exceeding 1%, mechanisms underlying autism spectrum disorders
(ASDs) are poorly understood, and targeted therapies and guiding parameters are urgently …

[HTML][HTML] Tuberous sclerosis complex

H Northrup, MK Koenig, DA Pearson, KS Au - 2021 - europepmc.org
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic
macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic …

Genotype/phenotype correlations in tuberous sclerosis complex

P Curatolo, R Moavero, D Roberto… - Seminars in pediatric …, 2015 - Elsevier
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
development of widespread hamartomatous lesions in various organs, including brain, skin …

New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives

A Mühlebner, A Bongaarts, HB Sarnat… - Journal of …, 2019 - Wiley Online Library
In recent years the role of the mammalian target of rapamycin (mTOR) pathway has
emerged as crucial for normal cortical development. Therefore, it is not surprising that …

Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

E Ercan, JM Han, A Di Nardo, K Winden… - Journal of Experimental …, 2017 - rupress.org
Disruption of myelination during development has been implicated in a range of
neurodevelopmental disorders including tuberous sclerosis complex (TSC). TSC patients …