Search Results - "Luinenburg, Mark"
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Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy
Published in Brain (London, England : 1878) (03-07-2023)“…Abstract Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic process, leading to early onset and difficult-to-treat…”
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Identification of gene regulatory networks affected across drug-resistant epilepsies
Published in Nature communications (11-03-2024)“…Epilepsy is a chronic and heterogenous disease characterized by recurrent unprovoked seizures, that are commonly resistant to antiseizure medications. This…”
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Astroglial calcium signaling and homeostasis in tuberous sclerosis complex
Published in Acta neuropathologica (01-06-2024)“…Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors in various organs, including the brain,…”
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4
Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies
Published in Neuropathology and applied neurobiology (01-10-2021)“…Aims We aim to evaluate if the myelin pathology observed in epilepsy‐associated focal cortical dysplasia type 2B (FCD2B) and—histologically…”
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Increased expression of complement components in tuberous sclerosis complex and focal cortical dysplasia type 2B brain lesions
Published in Epilepsia (Copenhagen) (01-02-2022)“…Objective Increasing evidence supports the contribution of inflammatory mechanisms to the neurological manifestations of epileptogenic developmental…”
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Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes
Published in Frontiers in cellular neuroscience (28-11-2023)“…Constitutive activation of the mTOR pathway, as observed in Tuberous Sclerosis Complex (TSC), leads to glial dysfunction and subsequent epileptogenesis…”
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MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
Published in Neuropathology and applied neurobiology (01-10-2021)“…Aims Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling…”
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8
Expression of Oncolytic Adenovirus-Encoded RNAi Molecules Is Most Effective in a pri-miRNA Precursor Format
Published in Molecular therapy. Oncolytics (16-12-2020)“…Oncolytic adenoviruses are being developed as new anti-cancer agents. Their efficacy can be improved by incorporating RNA interference (RNAi) molecules. RNAi…”
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Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway
Published in Epilepsy & behavior (01-06-2022)“…•Overactivation of the mTOR pathway is responsible for TSC-related epilepsy.•Mammalian target of rapamycin (mTOR) inhibitors offer a targeted therapeutic and…”
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10
Feasibility of phosphoproteomics to uncover oncogenic signalling in secreted extracellular vesicles using glioblastoma-EGFRVIII cells as a model
Published in Journal of proteomics (10-02-2021)“…Cancer cells secrete extracellular vesicles (EVs) that contain molecular information, including proteins and RNA. Oncogenic signalling can be transferred via…”
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Balloon cells promote immune system activation in focal cortical dysplasia type 2b
Published in Neuropathology and applied neurobiology (01-10-2021)“…Aims Focal cortical dysplasia (FCD) type 2 is an epileptogenic malformation of the neocortex associated with somatic mutations in the mammalian target of…”
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12
Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period
Published in Journal of neurodevelopmental disorders (15-01-2022)“…The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum…”
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