The molecular basis of nutrient sensing and signalling by mTORC1 in metabolism regulation and disease

C Goul, R Peruzzo, R Zoncu - Nature Reviews Molecular Cell Biology, 2023 - nature.com
Abstract The Ser/Thr kinase mechanistic target of rapamycin (mTOR) is a central regulator of
cellular metabolism. As part of mTOR complex 1 (mTORC1), mTOR integrates signals such …

The genetics of epilepsy

P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

S Baldassari, T Ribierre, E Marsan… - Acta …, 2019 - Springer
Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …

Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy

T Ribierre, A Bacq, F Donneger, M Doladilhe… - Nature …, 2024 - nature.com
Cortical malformations such as focal cortical dysplasia type II (FCDII) are associated with
pediatric drug-resistant epilepsy that necessitates neurosurgery. FCDII results from somatic …

Epilepsy in the mTORopathies: opportunities for precision medicine

PB Moloney, GL Cavalleri, N Delanty - Brain communications, 2021 - academic.oup.com
The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic'condition

H Martins Custodio, LM Clayton, R Bellampalli, S Pagni… - Brain, 2023 - academic.oup.com
Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically
caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its …

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

JA López-Rivera, C Leu, M Macnee, J Khoury… - Brain, 2023 - academic.oup.com
Understanding the exact molecular mechanisms involved in the aetiology of epileptogenic
pathologies with or without tumour activity is essential for improving treatment of drug …

[HTML][HTML] From genetic testing to precision medicine in epilepsy

P Striano, BA Minassian - Neurotherapeutics, 2020 - Elsevier
Epilepsy includes a number of medical conditions with recurrent seizures as common
denominator. The large number of different syndromes and seizure types as well as the …

Monogenic epilepsies: disease mechanisms, clinical phenotypes, and targeted therapies

R Guerrini, S Balestrini, EC Wirrell, MC Walker - Neurology, 2021 - neurology.org
A monogenic etiology can be identified in up to 40% of people with severe epilepsy. To
address earlier and more appropriate treatment strategies, clinicians are required to know …

DEPDC5 protects CD8+ T cells from ferroptosis by limiting mTORC1-mediated purine catabolism

S Li, X Ouyang, H Sun, J **, Y Chen, L Li, Q Wang… - Cell Discovery, 2024 - nature.com
Peripheral CD8+ T cell number is tightly controlled but the precise molecular mechanism
regulating this process is still not fully understood. In this study, we found that epilepsy …