A5031130594- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Sleep and Wakefulness Research
- Ion channel regulation and function
- Cannabis and Cannabinoid Research
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
Sorbonne Université
2021
Inserm
2021
Erasmus MC
2020-2021
Institut du Cerveau
2021
Hyperactivation of the mammalian target rapamycin (mTOR) pathway can cause malformation cortical development (MCD) with associated epilepsy and intellectual disability (ID) through a yet unknown mechanism. Here, we made use recently identified dominant-active mutation in Ras Homolog Enriched Brain 1 (RHEB), RHEBp.P37L, to gain insight mechanism underlying caused by hyperactivation mTOR pathway. Focal expression RHEBp.P37L mouse somatosensory cortex (SScx) results an MCD-like phenotype,...
ABSTRACT Dominant-active mutations in Ras Homolog Enriched Brain 1 ( RHEB ), such as the recently identified RHEBp.P37L mutation, can cause malformations of cortical development (MCD) with associated epilepsy and intellectual disability through a yet unknown mechanism. We found that focal expression mouse somatosensory cortex results an MCD-like phenotype, increased mammalian target rapamycin (mTOR) signaling, ectopic localization neurons generalized seizures. In addition, expressing showed...
Summary Perisomatic inhibition of neocortical pyramidal neurons (PNs) coordinates cortical network activity during sensory processing, and it has been mainly attributed to parvalbumin-expressing basket cells (BCs). However, cannabinoid receptor type 1 (CB1)-expressing interneurons also inhibit the perisomatic region PNs but connectivity function these elusive – yet prominent GABAergic is unknown. We found that pattern CB1-positive BCs strongly differs between primary high-order visual areas....