Mirte Scheper
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View article: Cell–cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia
Cell–cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia Open
Malformations of cortical development are manifestations of mTORopathies, including tubers in context of Tuberous Sclerosis Complex (TSC) cortical tubers and Focal Cortical Dysplasia (FCD), and are associated with epilepsy, often accompani…
View article: Cell-cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia
Cell-cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia Open
Malformations of cortical development are manifestations of mTORopathies, including tubers in context of Tuberous Sclerosis Complex (TSC) cortical tubers and Focal Cortical Dysplasia (FCD), and are associated with epilepsy, often accompani…
View article: Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex
Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex Open
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by pathogenic variants in TSC1 or TSC2, leading to mTOR pathway dysregulation and a spectrum of systemic and neurological manifestations. Tuberous Sclerosis Complex …
View article: The epilepsy–autism phenotype associated with developmental and epileptic encephalopathies: New mechanism‐based therapeutic options
The epilepsy–autism phenotype associated with developmental and epileptic encephalopathies: New mechanism‐based therapeutic options Open
Epilepsy and autism often co‐occur in genetic developmental and epileptic encephalopathies (DEEs), but their underlying neurobiological processes remain poorly understood, complicating treatment. Advances in molecular genetics and understa…
View article: Single-cell profiling of cortical tubers in tuberous sclerosis complex shows molecular structure preservation and massive reorganization of metabolism
Single-cell profiling of cortical tubers in tuberous sclerosis complex shows molecular structure preservation and massive reorganization of metabolism Open
Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder associated with loss-of-function mutations in the TSC1 or TSC2 gene, which lead mTOR pathway hyperactivation and epileptogenesis. Cortical tubers are the hallmark of TSC …
View article: Circulating <scp>microRNAs</scp> and <scp>isomiRs</scp> as biomarkers for the initial insult and epileptogenesis in four experimental epilepsy models: The <scp>EPITARGET</scp> study
Circulating <span>microRNAs</span> and <span>isomiRs</span> as biomarkers for the initial insult and epileptogenesis in four experimental epilepsy models: The <span>EPITARGET</span> study Open
Objective Structural epilepsies can manifest months or years after the occurrence of an initial epileptogenic insult, making them amenable for secondary prevention. However, development of preventive treatments has been challenged by a lac…
View article: miR-193b-3p/ PGC-1α pathway regulates an insulin dependent anti-inflammatory response in Parkinson's disease
miR-193b-3p/ PGC-1α pathway regulates an insulin dependent anti-inflammatory response in Parkinson's disease Open
It has been shown that many miRNAs, including miR-193b-3p, are differentially expressed in Parkinson's disease (PD). Dysregulation of miR-193b-3p/PGC-1α axis may alter homeostasis in cells and can induce an inflammatory response commonly a…
View article: Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes
Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes Open
Introduction Constitutive activation of the mTOR pathway, as observed in Tuberous Sclerosis Complex (TSC), leads to glial dysfunction and subsequent epileptogenesis. Although astrocytes are considered important mediators for synaptic clear…
View article: Levamisole suppresses activation and proliferation of human T cells by the induction of a p53-dependent DNA damage response
Levamisole suppresses activation and proliferation of human T cells by the induction of a p53-dependent DNA damage response Open
Levamisole (LMS) is a small molecule used in the treatment of idiopathic nephrotic syndrome (INS). The pathogenesis of INS remains unknown, but most evidence points towards an immunological basis of the disease. Recently, LMS has been show…
View article: Dysregulation of miR‐543 in Parkinson's disease: Impact on the neuroprotective gene SIRT1
Dysregulation of miR‐543 in Parkinson's disease: Impact on the neuroprotective gene SIRT1 Open
Aims Parkinson's disease (PD) is a progressive and age‐dependent neurodegenerative disease characterised clinically by a variety of motor symptoms and cognitive impairment. PD was initially considered to be a grey matter disease; however, …
View article: miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex Open
Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterized by a high incidence of epilepsy and neuropsychiatric manifestations known as tuberous-sclerosis-associated neuropsychiatric disorders (TANDs), including…