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 …

Metabolism and functions of lipids in myelin

S Schmitt, LC Castelvetri, M Simons - … (BBA)-Molecular and Cell Biology of …, 2015 - Elsevier
Rapid conduction of nerve impulses requires coating of axons by myelin sheaths, which are
lipid-rich and multilamellar membrane stacks. The lipid composition of myelin varies …

Specific ablation of Nampt in adult neural stem cells recapitulates their functional defects during aging

LR Stein, S Imai - The EMBO journal, 2014 - embopress.org
Neural stem/progenitor cell (NSPC) proliferation and self‐renewal, as well as insult‐induced
differentiation, decrease markedly with age. The molecular mechanisms responsible for …

Intracellular signaling pathway regulation of myelination and remyelination in the CNS

JM Gaesser, SL Fyffe-Maricich - Experimental neurology, 2016 - Elsevier
The restoration of myelin sheaths on demyelinated axons remains a major obstacle in the
treatment of multiple sclerosis (MS). Currently approved therapies work by modulating the …

Oligodendrocyte dysfunction in amyotrophic lateral sclerosis: mechanisms and therapeutic perspectives

S Raffaele, M Boccazzi, M Fumagalli - Cells, 2021 - mdpi.com
Myelin is the lipid-rich structure formed by oligodendrocytes (OLs) that wraps the axons in
multilayered sheaths, assuring protection, efficient saltatory signal conduction and metabolic …

Mammalian target of rapamycin promotes oligodendrocyte differentiation, initiation and extent of CNS myelination

SE Wahl, LE McLane, KK Bercury… - Journal of …, 2014 - Soc Neuroscience
Prior studies support a role for mammalian target of rapamycin (mTOR) signaling in
oligodendrocyte differentiation and myelination. Here we use Cre-recombinase driven by …

Balanced mTORC1 activity in oligodendrocytes is required for accurate CNS myelination

F Lebrun-Julien, L Bachmann, C Norrmén… - Journal of …, 2014 - Soc Neuroscience
The mammalian target of rapamycin (mTOR) pathway integrates multiple signals and
regulates crucial cell functions via the molecular complexes mTORC1 and mTORC2. These …

Conditional ablation of raptor or rictor has differential impact on oligodendrocyte differentiation and CNS myelination

KK Bercury, JX Dai, HH Sachs… - Journal of …, 2014 - Soc Neuroscience
During CNS development, oligodendrocytes, the myelinating glia of the CNS, progress
through multiple transitory stages before terminating into fully mature cells. Oligodendrocyte …

Impaired oligodendrocyte maturation in preterm infants: potential therapeutic targets

E Van Tilborg, CJ Heijnen, MJ Benders, F van Bel… - Progress in …, 2016 - Elsevier
Preterm birth is an evolving challenge in neonatal health care. Despite declining mortality
rates among extremely premature neonates, morbidity rates remain very high. Currently …

Abnormal mTOR activation in autism

KD Winden, D Ebrahimi-Fakhari… - Annual review of …, 2018 - annualreviews.org
The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates
environmental information regarding energy availability and stimulates anabolic molecular …