A5025125488- Tuberous Sclerosis Complex Research
- Child and Adolescent Psychosocial and Emotional Development
- Polyomavirus and related diseases
- Attention Deficit Hyperactivity Disorder
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Neuroscience and Neuropharmacology Research
- Psychiatric care and mental health services
- Medical Practices and Rehabilitation
- Health and Medical Studies
- Schizophrenia research and treatment
- Memory and Neural Mechanisms
- Neuroinflammation and Neurodegeneration Mechanisms
- German Literature and Culture Studies
- Histiocytic Disorders and Treatments
- Hedgehog Signaling Pathway Studies
- Adolescent and Pediatric Healthcare
- Receptor Mechanisms and Signaling
- Family Support in Illness
- Psychosomatic Disorders and Their Treatments
- Congenital heart defects research
- Cardiac electrophysiology and arrhythmias
- Medical and Health Sciences Research
- Cell death mechanisms and regulation
- Bipolar Disorder and Treatment
Universitätsmedizin Göttingen
2020-2025
German Center for Pediatric and Adolescent Rheumatology
2025
Ruhr University Bochum
2025
University Hospital Carl Gustav Carus
2016-2024
TU Dresden
2017-2024
University of Göttingen
2022
Klinik und Poliklinik für Kinder- und Jugendpsychiatrie
2018-2019
Heidelberg University
2007-2013
Saarland University
2013
University of Tübingen
2001-2013
Long-term potentiation (LTP) is a cellular model for persistent synaptic plasticity in the mammalian brain. Like several forms of memory, long-lasting LTP requires cAMP-mediated activation protein kinase A (PKA) and dependent on gene transcription. Consequently, activity-dependent genes such as c-fos that contain cAMP response elements (CREs) their 5' regulatory region have been studied intensely. More recently, arg3.1/arc became interest, because after stimulation, mRNA rapidly induced...
Abstract Background Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations diagnosis and management have been established. TSC is, however, also TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified under-treated yet profound burden disease. The contemporary evidence base the identification treatment TAND much more limited and, to date, consensus non-specific. Methods TANDem...
Tuberous sclerosis complex (TSC) is a common hereditary disorder caused by mutations in either the TSC1 or TSC2 genes, and characterized severe epilepsy, cerebral hamartomas mental retardation. We have used rats that are heterozygous for an autosomal-dominant germline mutation gene (TSC2+/- rats) to examine consequences of hippocampal synaptic plasticity. While basal transmission Schaffer collateral-CA1 synapse was not altered, paired-pulse plasticity significantly enhanced TSC2+/-...
TGF-beta is a putative mediator of immunosuppression associated with malignant glioma and other types cancer. Subtilisin-like proprotein convertases such as furin are thought to mediate processing. Here we report that human cell lines express mRNA protein, exhibit furin-like protease (FLP) activity, release active into the culture supernatant. FLP activity not modulated by exogenous or neutralizing Abs. Exposure LN-18 T98G inhibitor, decanoyl-Arg-Val-Lys-Arg-chloromethylketone, inhibits...
Abstract Tuberous sclerosis complex (TSC) is a common neurological autosomal‐dominant syndrome caused by mutations in the TSC1 or TSC2 genes. TSC starts early childhood and characterized cerebral hamartomas (benign tumours), severe epilepsy cognitive deficits such as mental retardation autism. The are loss of remaining wild‐type allele, clinical data implicate generation epileptic seizures, which may play significant role development retardation. mutation predicts alterations...
Mutations in the SRGAP3 gene residing on chromosome 3p25 have previously been associated with intellectual disability. Genome-wide association studies also revealed SRGAP3, together genes from same cellular network, as risk for schizophrenia. regulates cytoskeletal dynamics through RHO protein RAC1. proteins are known to be involved reorganization during brain development control processes such synaptic plasticity. To elucidate importance of development, we generated Srgap3-knockout mice....
Abstract Background Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% individuals with TSC during their lifetime, these are relatively under-assessed, under-treated under-researched. We performed a comprehensive scoping review all research to date (a) describe existing landscape (b) identify knowledge...
The early onset, high prevalence, persistence and comorbidity of developmental disorders make affective dysregulation (AD) in childhood adolescence one the conditions with greatest psychosocial burden economic impact on society. Despite ongoing research, there remains a substantial need to optimize individualized treatment strategies improve outcomes alleviate subjective distress costs. objective this study is investigate psychopathological markers AD children adolescents...
<h2>Abstract</h2><h3>Introduction</h3> Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND) are often present but under-identified and under-treated in individuals with (TSC). The clinician-completed TAND-Lifetime Checklist (TAND-L) was developed to address this identification treatment gap. Stakeholder engagement identified the need for a TAND that can 1) be completed by caregivers or TSC, 2) quantify difficulties. aim of study develop self-report quantified (TAND-SQ),...
Abstract Background Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum (ASD), is caused by mutations of TSC1 or TSC2 , which lead to constitutive overactivation mammalian target rapamycin (mTOR). In several Tsc1+/- and Tsc2+/- animal models, cognitive social behavior deficits were reversed mTOR inhibitors. However, phase II studies have not shown amelioration ASD in individuals TSC during inhibitor therapy. We asked here if developmental...
Many schizophrenic patients have comorbid obsessive-compulsive syndromes (OCS) frequently associated with antiserotonergic second-generation antipsychotics such as clozapine and olanzapine. Whereas cognitive behavioral therapy antiobsessive antidepressants brought up inconsistent results, pharmacological add-on strategies were able to alleviate OCS. One suggestive agent for treatment is aripiprazole, a partial agonist at dopamine serotonin receptors. Here, we summarize the course of patient...
Introduction Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals TSC their caregivers. TAND represents number one concern to families worldwide, yet highly under-identified under-treated. The clinician-administered TAND-Checklist (Lifetime version, TAND-L) has improved identification in clinical settings. However, many caregivers still have...
Memory extinction, defined as a decrease of conditioned response function non-reinforced stimulus presentation, has high biological and clinical relevance. Extinction is not passive reversing or erasing the plasticity associated with acquisition, but novel, active learning process. Nifedipine blocks L-type voltage gated calcium channels (LVGCC) been shown previously to selectively interfere fear memory. We studied here effect retrograde anterograde shifts nifedipine application, respect an...
Slit-Robo signaling guides commissural axons away from the floor-plate of spinal cord and into longitudinal axis after crossing midline. In this study we have evaluated role GTPase activating protein 3 (srGAP3) in axon guidance using a knockout (KO) mouse model. Co-immunoprecipitation experiments confirmed that srGAP3 interacts with Slit receptors Robo1 Robo2 immunohistochemistry studies showed co-localises ventral lateral funiculus funiculus. Stalling been reported Robo mutant cords but our...