The molecular basis of nutrient sensing and signalling by mTORC1 in metabolism regulation and disease
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 …
cellular metabolism. As part of mTOR complex 1 (mTORC1), mTOR integrates signals such …
The genetics of epilepsy
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study
Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …
Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy
Cortical malformations such as focal cortical dysplasia type II (FCDII) are associated with
pediatric drug-resistant epilepsy that necessitates neurosurgery. FCDII results from somatic …
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 …
cell metabolism, growth, proliferation and survival. The main cellular activity of the …
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic'condition
Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically
caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its …
caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its …
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
Understanding the exact molecular mechanisms involved in the aetiology of epileptogenic
pathologies with or without tumour activity is essential for improving treatment of drug …
pathologies with or without tumour activity is essential for improving treatment of drug …
[HTML][HTML] From genetic testing to precision medicine in epilepsy
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 …
denominator. The large number of different syndromes and seizure types as well as the …
Monogenic epilepsies: disease mechanisms, clinical phenotypes, and targeted therapies
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 …
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 …
regulating this process is still not fully understood. In this study, we found that epilepsy …