Protein synthesis control in cancer: selectivity and therapeutic targeting

JR Kovalski, D Kuzuoglu‐Ozturk, D Ruggero - The EMBO Journal, 2022 - embopress.org
Translational control of mRNAs is a point of convergence for many oncogenic signals
through which cancer cells tune protein expression in tumorigenesis. Cancer cells rely on …

International consensus recommendations on the diagnostic work-up for malformations of cortical development

R Oegema, TS Barakat, M Wilke, K Stouffs… - Nature Reviews …, 2020 - nature.com
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …

Targeted suppression of mTORC2 reduces seizures across models of epilepsy

J Okoh, J Mays, A Bacq, JA Oses-Prieto… - Nature …, 2023 - nature.com
Epilepsy is a neurological disorder that poses a major threat to public health.
Hyperactivation of mTOR complex 1 (mTORC1) is believed to lead to abnormal network …

mTOR pathway: insights into an established pathway for brain mosaicism in epilepsy

A Gerasimenko, S Baldassari, S Baulac - Neurobiology of Disease, 2023 - Elsevier
The mechanistic target of rapamycin (mTOR) signaling pathway is an essential regulator of
numerous cellular activities such as metabolism, growth, proliferation, and survival. The …

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

C Chung, X Yang, T Bae, KI Vong, S Mittal, C Donkels… - Nature …, 2023 - nature.com
Malformations of cortical development (MCD) are neurological conditions involving focal
disruptions of cortical architecture and cellular organization that arise during …

Convergent and divergent mechanisms of epileptogenesis in mTORopathies

LH Nguyen, A Bordey - Frontiers in neuroanatomy, 2021 - frontiersin.org
Hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) due to
mutations in genes along the PI3K-mTOR pathway and the GATOR1 complex causes a …

The neurodevelopmental pathogenesis of tuberous sclerosis complex (TSC)

DM Feliciano - Frontiers in Neuroanatomy, 2020 - frontiersin.org
Tuberous sclerosis complex (TSC) is a model disorder for understanding brain development
because the genes that cause TSC are known, many downstream molecular pathways have …

Cortical dysplasia and the mTOR pathway: How the study of human brain tissue has led to insights into epileptogenesis

WS Lee, S Baldassari, SEM Stephenson… - International Journal of …, 2022 - mdpi.com
Type II focal cortical dysplasia (FCD) is a neuropathological entity characterised by cortical
dyslamination with the presence of dysmorphic neurons only (FCDIIA) or the presence of …

Non–cell autonomous epileptogenesis in focal cortical dysplasia

HY Koh, J Jang, SH Ju, R Kim, GB Cho… - Annals of …, 2021 - Wiley Online Library
Objective Low‐level somatic mosaicism in the brain has been shown to be a major genetic
cause of intractable focal epilepsy. However, how a relatively few mutation‐carrying neurons …

Proteomic differences in the hippocampus and cortex of epilepsy brain tissue

G Pires, D Leitner, E Drummond, E Kanshin… - Brain …, 2021 - academic.oup.com
Epilepsy is a common neurological disorder affecting over 70 million people worldwide, with
a high rate of pharmaco-resistance, diverse comorbidities including progressive cognitive …