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Article
Open AccessDMRTA2 supports glioma stem-cell mediated neovascularization in glioblastoma
Glioblastoma (GBM) is the most common and lethal brain tumor in adults. Due to its fast proliferation, diffusive growth and therapy resistance survival times are less than two years for patients with IDH-wildt...
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Article
Open AccessMolecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), in whi...
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Article
Open AccessEffect of mTOR Inhibitors in Epilepsy Treatment in Children with Tuberous Sclerosis Complex Under 2 Years of Age
Mechanistic target of rapamycin (mTOR) inhibitors sirolimus and everolimus are an effective therapy for subependymal giant cell astrocytomas, cardiac rhabdomyomas, renal angiomyolipomas, and lymphangioleiomyom...
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Article
Open AccessDistinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a monogenic disorder caused by mutations in either the TSC1 or TSC2 gene, two key regulators of the mechanistic target of the rapamycin complex pathway. Phenotypically, this le...
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Open AccessAuthor Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment
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Article
Open AccessDown-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period
The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying de...
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Open AccessAuthor Correction: Map** chromatin accessibility and active regulatory elements reveals pathological mechanisms in human gliomas
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Open AccessMap** chromatin accessibility and active regulatory elements reveals pathological mechanisms in human gliomas
Chromatin structure and accessibility, and combinatorial binding of transcription factors to regulatory elements in genomic DNA control transcription. Genetic variations in genes encoding histones, epigenetics...
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Article
Open AccessmTOR controls endoplasmic reticulum–Golgi apparatus trafficking of VSVg in specific cell types
Mammalian/mechanistic target of rapamycin (mTOR) complexes are essential for cell proliferation, growth, differentiation, and survival. mTORC1 hyperactivation occurs in the tuberous sclerosis complex (TSC). mT...
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Article
Open AccessCoding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a mutation in the TSC1 or TSC2 genes leading to constitutive activation of the mechanistic target of rapamycin complex 1 (mTORC1). TSC...
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Article
What are the true volumes of SEGA tumors? Reliability of planimetric and popular semi-automated image segmentation methods
To evaluate the reliability of the standard planimetric methodology of volumetric analysis and three different open-source semi-automated approaches of brain tumor segmentation.
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Article
Open AccessAbnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications
Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com...
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Article
Everolimus treatment among patients with tuberous sclerosis affects serum lipid profile
The purpose of the study was to evaluate lipid homeostasis before and after treatment of everolimus, the mammalian target of the rapamycin (mTOR) inhibitor, among patients with tuberous sclerosis complex (TSC).
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Article
Management of side effects of mTOR inhibitors in tuberous sclerosis patients
mTOR inhibitors represent a relatively new therapeutic option in the management of patients affected by tuberous sclerosis complex (TSC). Randomized clinical trials support the use of everolimus in the treatme...
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Article
The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions
Tuberous sclerosis complex (TSC) is a genetic disorder arising from mutations in the TSC1 or TSC2 genes. The resulting over-activation of the mammalian target of rapamycin (mTOR) signalling pathway leaves patient...
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Article
Open AccessLong-term High Fat Ketogenic Diet Promotes Renal Tumor Growth in a Rat Model of Tuberous Sclerosis
Nutritional imbalance underlies many disease processes but can be very beneficial in certain cases; for instance, the antiepileptic action of a high fat and low carbohydrate ketogenic diet. Besides this therap...
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Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children
Metabolites of cerebrospinal biogenic amines (dopamine and serotonin) are an important tool in clinical research and diagnosis of children with neurotransmitter disorders. In this article we focused on finding...
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Article
Open AccessSevere central and peripheral paraneoplastic demyelination associated with tumours of the ovaries
The aim of the study is to present MRI examinations of the brain and spinal cord, performed in girls with acute severe neurological presentation of paraneoplastic syndrome associated with ovarian teratomas. Pa...
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Article
Open AccessTuberous sclerosis complex neuropathology requires glutamate-cysteine ligase
Tuberous sclerosis complex (TSC) is a genetic disease resulting from mutation in TSC1 or TSC2 and subsequent hyperactivation of mammalian Target of Rapamycin (mTOR). Common TSC features include brain lesions, suc...
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Article
Open AccessCongenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex
Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in a second decade of life, but may develop in the first months of life. The aim o...
