Tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
[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 …
[HTML][HTML] Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
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 …
Epilepsy in the mTORopathies: opportunities for precision medicine
PB Moloney, GL Cavalleri, N Delanty - Brain communications, 2021 - academic.oup.com
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 …
cell metabolism, growth, proliferation and survival. The main cellular activity of the …
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 …
Genetically engineered human cortical spheroid models of tuberous sclerosis
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by
mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of …
mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of …
Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex
CL Salussolia, K Klonowska… - Annual Review of …, 2019 - annualreviews.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the …
organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the …
TuberOus SClerosis registry to increase disease Awareness (TOSCA)–baseline data on 2093 patients
JC Kingswood, GB d'Augères, E Belousova… - Orphanet journal of rare …, 2017 - Springer
Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic
disorder. Many gaps remain in the understanding of TSC because of the complexity in …
disorder. Many gaps remain in the understanding of TSC because of the complexity in …
The genomic landscape of tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of
benign tumours and other hamartomatous lesions, which leads to diverse and debilitating …
benign tumours and other hamartomatous lesions, which leads to diverse and debilitating …