Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that
controls several important aspects of mammalian cell function. mTOR activity is modulated …

The mammalian target of rapamycin (mTOR) is an ubiquitously expressed serine-threonine
kinase, which senses and integrates several intracellular and environmental cues to …

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic
macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic …

Background Tuberous sclerosis complex (TSC) is a multisystem disease with prominent
neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum …

The L-type calcium channels (LTCCs) Ca v 1.2 and Ca v 1.3, encoded by the CACNA1C
and CACNA1D genes, respectively, are important regulators of calcium influx into cells and …

INTRODUCTION The G protein–coupled receptor (GPCR) superfamily is a major drug target
for neurological diseases. Functionally selective agonists activate GPCRs, such as the …

CACNA1D encodes the pore-forming α1-subunit of Cav1. 3, an L-type voltage-gated Ca2+-
channel. Despite the recent discovery of two de novo missense gain-of-function mutations in …

Abstract The Mechanistic Target Of Rapamycin Complex 1 (mTORC1) pathway controls
several aspects of neuronal development. Mutations in regulators of mTORC1, such as Tsc1 …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is associated with
unique changes in mitochondrial metabolism, including elevated respiration rates and …

Autism spectrum disorders (ASD) form a heterogeneous, neurodevelopmental syndrome
characterized by deficits in social interactions and repetitive behavior/restricted interests …