[HTML][HTML] Current approaches and future directions for the treatment of mTORopathies
The mechanistic target of rapamycin (mTOR) is a kinase at the center of an evolutionarily
conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds …
conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds …
Convergent and divergent mechanisms of epileptogenesis in mTORopathies
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 …
mutations in genes along the PI3K-mTOR pathway and the GATOR1 complex causes a …
Human in vitro models of epilepsy using embryonic and induced pluripotent stem cells
MS Javaid, T Tan, N Dvir, A Anderson, T J. O'Brien… - Cells, 2022 - mdpi.com
The challenges in making animal models of complex human epilepsy phenotypes with
varied aetiology highlights the need to develop alternative disease models that can address …
varied aetiology highlights the need to develop alternative disease models that can address …
STRADA‐mutant human cortical organoids model megalencephaly and exhibit delayed neuronal differentiation
Genetic diseases involving overactivation of the mechanistic target of rapamycin (mTOR)
pathway, so‐called “mTORopathies,” often manifest with malformations of cortical …
pathway, so‐called “mTORopathies,” often manifest with malformations of cortical …
Mechanistic target of rapamycin signaling in human nervous system development and disease
M Girodengo, SK Ultanir, JM Bateman - Frontiers in Molecular …, 2022 - frontiersin.org
Mechanistic target of rapamycin (mTOR) is a highly conserved serine/threonine kinase that
regulates fundamental cellular processes including growth control, autophagy and …
regulates fundamental cellular processes including growth control, autophagy and …
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
MO Levitin, LE Rawlins, G Sanchez-Andrade… - Brain, 2023 - academic.oup.com
KPTN-related disorder is an autosomal recessive disorder associated with germline variants
in KPTN (previously known as kaptin), a component of the mTOR regulatory complex …
in KPTN (previously known as kaptin), a component of the mTOR regulatory complex …
[HTML][HTML] The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development
Q Ma, G Chen, Y Li, Z Guo, X Zhang - Genes & Diseases, 2024 - Elsevier
Malformations of cortical development (MCD) are a group of developmental disorders
characterized by abnormal cortical structures caused by genetic or harmful environmental …
characterized by abnormal cortical structures caused by genetic or harmful environmental …
Current review in basic science: animal models of focal cortical dysplasia and epilepsy
Focal cortical dysplasia (FCD) is a malformation of cortical development that is a prevalent
cause of intractable epilepsy in children. Of the three FCD subtypes, understanding the …
cause of intractable epilepsy in children. Of the three FCD subtypes, understanding the …
In vitro human cell culture models in a bench‐to‐bedside approach to epilepsy
Š Danačíková, B Straka, J Daněk, V Kořínek… - Epilepsia …, 2024 - Wiley Online Library
Epilepsy is the most common chronic neurological disease, affecting nearly 1%–2% of the
world's population. Current pharmacological treatment and regimen adjustments are aimed …
world's population. Current pharmacological treatment and regimen adjustments are aimed …
Develo** novel experimental models of m-TORopathic epilepsy and related neuropathologies: translational insights from zebrafish
The mammalian target of rapamycin (mTOR) is an important molecular regulator of cell
growth and proliferation. Brain mTOR activity plays a crucial role in synaptic plasticity, cell …
growth and proliferation. Brain mTOR activity plays a crucial role in synaptic plasticity, cell …