Results 61 to 70 of about 25,325 (232)
TSC2 regulates PKM2 phosphorylation in an mTORC1-independent manner.
(A) Immunoblot analysis of TSC2, phospho-PKM2 [Ser37], PKM2 and Phospho-S6 [Ser235/236] in 621–101 (TSC2-) and 621–103 (TSC2+) cells (n = 3); β-actin as a loading control. (B) Densitometry analysis of phospho-PKM2 [Ser37] was performed (n = 3).
Erik Zhang (70061) +9 more
core +1 more source
Inactivating mutations in either TSC1 or TSC2 cause Tuberous Sclerosis Complex, an autosomal dominant disorder, characterized by multi-system tumor and hamartoma development.
Evelyn M Mrozek +5 more
doaj +1 more source
Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort
Abstract The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125)
Fiona S. McEwen +12 more
wiley +1 more source
Background: Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex ...
Selma Demir +14 more
core +1 more source
Hypomyelination following deletion of Tsc2 in oligodendrocyte precursors [PDF]
AbstractObjectiveWhile abnormalities in myelin in tuberous sclerosis complex (TSC) have been known for some time, recent imaging‐based data suggest myelin abnormalities may be independent of the pathognomonic cortical lesions (“tubers”). Multiple mouse models of TSC exhibit myelination deficits, though the cell types responsible and the mechanisms ...
Carson, Robert P. +9 more
openaire +2 more sources
Search for pyrenophorosis resistance allele Tsc2 in winter common wheat samples
Winter common wheat is one of the most important food crops in Russia and worldwide. It plays a vital role in ensuring food safety. This makes it important to develop varieties resistant to dangerous foliar diseases such as pyrenophorosis. One of the key
N. N. Vozhzhova, D. M. Marchenko
doaj +1 more source
Ablation of TSC2 enhances insulin secretion by increasing the number of mitochondria through activation of mTORC1. [PDF]
AIM:We previously found that chronic tuberous sclerosis protein 2 (TSC2) deletion induces activation of mammalian target of rapamycin Complex 1 (mTORC1) and leads to hypertrophy of pancreatic beta cells from pancreatic beta cell-specific TSC2 knockout ...
Maki Koyanagi +17 more
doaj +1 more source
Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex
Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Dongjun Guo +4 more
wiley +1 more source
Targeting Rb Mutant Cancers by Inactivating TSC2
Retinoblastoma (Rb), a tumor suppressor gene, is inactivated in many types of cancer. However little is known about how the loss of Rb function can be targeted in cancer therapies. We have identified that inactivation of TSC2 in Rb mutant cancer cells will induce a synergistic cell death.
Jennifer S, Searle, Binghui, Li, Wei, Du
openaire +2 more sources
Deep whole genome sequencing of epileptogenic brain lesions
Abstract Objective Malformations of cortical development and low‐grade epilepsy‐associated tumors often cause drug‐resistant lesional focal epilepsy (LFE) amenable to surgical treatment. Genetic testing of resected brain tissue can provide diagnostic and mechanistic information and may eventually support personalized treatment approaches.
Christian M. Boßelmann +17 more
wiley +1 more source

