Autophagy in major human diseases

DJ Klionsky, G Petroni, RK Amaravadi… - The EMBO …, 2021 - embopress.org
Autophagy is a core molecular pathway for the preservation of cellular and organismal
homeostasis. Pharmacological and genetic interventions impairing autophagy responses …

Role of mTOR in glucose and lipid metabolism

Z Mao, W Zhang - International journal of molecular sciences, 2018 - mdpi.com
The mammalian target of rapamycin, mTOR is the master regulator of a cell's growth and
metabolic state in response to nutrients, growth factors and many extracellular cues. Its …

The epigenome in neurodevelopmental disorders

J Reichard, G Zimmer-Bensch - Frontiers in Neuroscience, 2021 - frontiersin.org
Neurodevelopmental diseases (NDDs), such as autism spectrum disorders, epilepsy, and
schizophrenia, are characterized by diverse facets of neurological and psychiatric …

mTOR signaling regulates the morphology and migration of outer radial glia in developing human cortex

MG Andrews, L Subramanian, AR Kriegstein - elife, 2020 - elifesciences.org
Outer radial glial (oRG) cells are a population of neural stem cells prevalent in the
developing human cortex that contribute to its cellular diversity and evolutionary expansion …

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 …

Roles of primary cilia in the developing brain

SM Park, HJ Jang, JH Lee - Frontiers in cellular neuroscience, 2019 - frontiersin.org
Essential to development, primary cilia are microtubule-based cellular organelles that
protrude from the surface of cells. Acting as cellular antenna, primary cilia play central roles …

mTOR hyperactivity levels influence the severity of epilepsy and associated neuropathology in an experimental model of tuberous sclerosis complex and focal cortical …

LH Nguyen, T Mahadeo, A Bordey - Journal of Neuroscience, 2019 - Soc Neuroscience
Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are focal
malformations of cortical development (FMCDs) that are highly associated with intractable …

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 …

Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours

I Blumcke, S Budday, A Poduri, D Lal, K Kobow… - The Lancet …, 2021 - thelancet.com
During the past decade, there have been considerable advances in understanding of the
genetic and morphogenic processes underlying cortical malformations and developmental …

The multifaceted roles of primary cilia in the development of the cerebral cortex

K Hasenpusch-Theil, T Theil - Frontiers in cell and developmental …, 2021 - frontiersin.org
The primary cilium, a microtubule based organelle protruding from the cell surface and
acting as an antenna in multiple signaling pathways, takes center stage in the formation of …