mTOR: Role in cancer, metastasis and drug resistance
AK Murugan - Seminars in cancer biology, 2019 - Elsevier
Mammalian target of rapamycin (mTOR) is a serine/threonine kinase that gets inputs from
the amino acids, nutrients, growth factor, and environmental cues to regulate varieties of …
the amino acids, nutrients, growth factor, and environmental cues to regulate varieties of …
[HTML][HTML] Molecular neurobiology of mTOR
K Switon, K Kotulska, A Janusz-Kaminska… - Neuroscience, 2017 - Elsevier
Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that
controls several important aspects of mammalian cell function. mTOR activity is modulated …
controls several important aspects of mammalian cell function. mTOR activity is modulated …
The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission
Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous
research and consensus agreement to improve disease definition and classification. An …
research and consensus agreement to improve disease definition and classification. An …
[HTML][HTML] Dissecting the genetic basis of focal cortical dysplasia: a large cohort study
Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …
[HTML][HTML] Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …
The mTOR signalling cascade: paving new roads to cure neurological disease
PB Crino - Nature Reviews Neurology, 2016 - nature.com
Defining the multiple roles of the mechanistic (formerly'mammalian') target of rapamycin
(mTOR) signalling pathway in neurological diseases has been an exciting and rapidly …
(mTOR) signalling pathway in neurological diseases has been an exciting and rapidly …
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
We characterize the landscape of somatic mutations—mutations occurring after fertilization—
in the human brain using ultra-deep (~ 250×) whole-genome sequencing of prefrontal cortex …
in the human brain using ultra-deep (~ 250×) whole-genome sequencing of prefrontal cortex …
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies
KM Keppler‐Noreuil, VER Parker… - American Journal of …, 2016 - Wiley Online Library
The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …
Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism
GM Mirzaa, CD Campbell, N Solovieff, CP Goold… - JAMA …, 2016 - jamanetwork.com
Importance Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly
constitute a spectrum of malformations of cortical development with shared neuropathologic …
constitute a spectrum of malformations of cortical development with shared neuropathologic …
[HTML][HTML] Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling, ML Thompson, MD Amaral, CR Finnila… - Genome medicine, 2017 - Springer
Background Developmental disabilities have diverse genetic causes that must be identified
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …