The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

The mechanistic target of rapamycin complex 1 (mTORC1) is a central regulator of cell
growth that responds to diverse environmental signals and is deregulated in many human …

Mechanistic target of rapamycin complex 1 (mTORC1) senses nutrient availability to
appropriately regulate cellular anabolism and catabolism. During nutrient restriction …

The mechanistic target of rapamycin (mTOR) pathway has been implicated in a growing
number of malformations of cortical development (MCD) associated with intractable …

Recently, with the advancement in next generation sequencing (NGS) along with the
improvement of bioinformatics tools, whole exome sequencing (WES) has become the most …

The mechanistic target of rapamycin complex 1 (mTORC1) is a master regulator of cell
growth in eukaryotic cells. The active mTORC1 promotes cellular anabolic processes …

RagGTPases (Rags) play an essential role in the regulation of cell metabolism by controlling
the activities of both mechanistic target of rapamycin complex 1 (mTORC1) and …

Brain morphogenesis is an important process contributing to higher-order cognition,
however our knowledge about its biological basis is largely incomplete. Here we analyze …

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 …