Results 61 to 70 of about 18,866 (220)

Ablation of the mTORC2 component rictor in brain or Purkinje cells affects size and neuron morphology [PDF]

open access: yes, 2013
The mammalian target of rapamycin (mTOR) assembles into two distinct multi-protein complexes called mTORC1 and mTORC2. Whereas mTORC1 is known to regulate cell and organismal growth, the role of mTORC2 is less understood. We describe two mouse lines that
Schweighauser, Manuel   +15 more
core   +1 more source

Fasting metabolism modulates the interleukin-12/interleukin-10 cytokine axis.

open access: yesPLoS ONE, 2017
A crucial role of cell metabolism in immune cell differentiation and function has been recently established. Growing evidence indicates that metabolic processes impact both, innate and adaptive immunity.
Johannes J Kovarik   +16 more
doaj   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

open access: yesEpilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara   +7 more
wiley   +1 more source

Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene

open access: yes, 2023
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by neuropsychiatric symptoms and multiple dysplastic organ lesions, caused by loss of function mutations in either TSC1 or TSC2.
Hiroki Ura   +4 more
core   +1 more source

Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex

open access: yesNeurobiology of Disease, 2012
Tuberous sclerosis complex (TSC) and fragile X syndrome (FXS) are caused by mutations in negative regulators of translation. FXS model mice exhibit enhanced metabotropic glutamate receptor-dependent long-term depression (mGluR-LTD).
Itzamarie Chévere-Torres   +8 more
doaj   +1 more source

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal   +5 more
wiley   +1 more source

Mechanistic Target of Rapamycin Complex 1 Signaling Links Hypoxia to Increased IGFBP-1 Phosphorylation in Primary Human Decidualized Endometrial Stromal Cells

open access: yesBiomolecules, 2021
Insulin-like growth factor-1 (IGF-1) bioavailability in pregnancy is governed by IGF binding protein (IGFBP-1) and its phosphorylation, which enhances the affinity of IGFBP-1 for the growth factor.
Pinki Nandi   +5 more
doaj   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

open access: yesEpilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su   +6 more
wiley   +1 more source

The role of raptor during brain development and in adult forebrain neurons [PDF]

open access: yes, 2012
mTOR is a serine/threonine protein kinase that appears in two functionally distinct multi-protein complexes. mTOR together with the scaffold protein raptor forms mTOR complex1 (mTORC1) that is inhibited in its function by rapamycin.
Lustenberger, Regula Maria
core   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

open access: yesEpilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann   +2 more
wiley   +1 more source

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