A5005633849- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Cholinesterase and Neurodegenerative Diseases
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- RNA modifications and cancer
- biodegradable polymer synthesis and properties
- Congenital Anomalies and Fetal Surgery
- Nerve injury and regeneration
- Biochemical Acid Research Studies
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- RNA Research and Splicing
- Histone Deacetylase Inhibitors Research
- Palliative Care and End-of-Life Issues
- Mesenchymal stem cell research
- Botulinum Toxin and Related Neurological Disorders
- Prion Diseases and Protein Misfolding
- Healthcare Decision-Making and Restraints
- Neuroscience and Neuropharmacology Research
- Pluripotent Stem Cells Research
- Muscle Physiology and Disorders
- Peripheral Neuropathies and Disorders
Medizinische Hochschule Hannover
2016-2025
Diakovere
2025
SMART Reading
2024
Hanover College
2022-2023
Universität Ulm
2021
Universitätsmedizin Rostock
2021
University Medical Center
2021
University of Rostock
2021
University Hospital Carl Gustav Carus
2021
Technische Universität Dresden
2021
Transporter-facilitated uptake of serotonin (5-hydroxytryptamine or 5-HT) has been implicated in anxiety humans and animal models is the site action widely used uptake-inhibiting antidepressant antianxiety drugs. Human 5-HT transporter (5-HTT) gene transcription modulated by a common polymorphism its upstream regulatory region. The short variant reduces transcriptional efficiency 5-HTT promoter, resulting decreased expression lymphoblasts. Association studies two independent samples totaling...
Abstract: Mood, emotion, cognition, and motor functions as well circadian neuroendocrine rhythms, including food intake, sleep, reproductive activity, are modulated by the midbrain raphe serotonin (5‐HT) system. By directing magnitude duration of postsynaptic responses, carrier‐facilitated 5‐HT transport into release from presynaptic neuron essential for fine tuning serotonergic neurotransmission. Interest in mechanism environmental factor‐, disease‐, therapy‐induced modification transporter...
Background: The evidence base for the diagnosis and management of amyotrophic lateral sclerosis (ALS) is weak. Objectives: To provide evidence‐based or expert recommendations ALS based on a literature search consensus an panel. Methods: All available medical reference systems were searched, original papers, meta‐analyses, review book chapters guidelines reviewed. final was performed in February 2011. Recommendations reached by consensus. Recommendations: Patients with symptoms suggestive...
Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder due to selective loss of motor neurons (MNs). Mutations in the fused sarcoma ( FUS ) gene can cause both juvenile and late onset ALS. We generated characterized induced pluripotent stem cells (iPSCs) from ALS patients with different mutations, as well healthy controls. Patient-derived MNs show typical cytoplasmic pathology, hypoexcitability, axonal transport defects. Axonal defects are rescued by...
TDP-43 (TAR DNA-binding protein 43) inclusions are a hallmark of amyotrophic lateral sclerosis (ALS). In this study, we report that and nuclear factor κB (NF-κB) p65 messenger RNA expression is higher in spinal cords ALS patients than healthy individuals. interacts with colocalizes glial neuronal cells from mice expressing wild-type mutant transgenes but not individuals or nontransgenic mice. acted as co-activator p65, amounts produced more proinflammatory cytokines neurotoxic mediators...
The development of therapeutics for ALS/MND is largely based on work in experimental animals carrying human SOD mutations. However, translation apparent therapeutic successes from vivo to the disease has proven difficult and a considerable amount financial resources been apparently wasted. Standard operating procedures (SOPs) preclinical animal research are urgently required. Such SOPs will help establish translational other neurological diseases within next few years. To identify challenges...
Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disease. Cytoplasmic fused in sarcoma (FUS) aggregates are pathological hallmarks of FUS-ALS. Proper shuttling between nucleus and cytoplasm essential for physiological cell function. However, initial event pathophysiology FUS-ALS remains enigmatic. Using human induced pluripotent stem (hiPSCs)-derived neurons (MNs), we show that impairment poly(ADP-ribose) polymerase (PARP)-dependent DNA damage response (DDR) signaling...
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift C-terminal domain KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together observation that many genes amyotrophic lateral sclerosis disrupt cytoskeletal function intracellular...
To examine neurofilament (Nf) concentrations according to symptom onset and clinical diagnostic certainty categories of amyotrophic lateral sclerosis (ALS).We measured Nf light chain (NfL) phosphorylated heavy (pNfH) CSF NfL serum levels in patients with ALS first ≤6 months (n = 54) or >6 135) from sampling, other neurologic diseases, differential diagnoses a motor neuron disease (MND mimics), MND variants determine the accuracy early onset. Samples were received multicentric analyzed by...
Objective Weight loss has been identified as a negative prognostic factor in amyotrophic lateral sclerosis, but there is no evidence regarding whether high‐caloric diet increases survival. Therefore, we sought to evaluate the efficacy of fatty (HCFD) for increasing Methods A 1:1 randomized, placebo‐controlled, parallel‐group, double‐blinded trial (LIPCAL‐ALS study) was conducted between February 2015 and September 2018. Patients were followed up at 3, 6, 9, 12, 15, 18 months after...
<h3>Importance</h3> Intravenous edaravone is approved as a disease-modifying drug for patients with amyotrophic lateral sclerosis (ALS), but evidence efficacy limited to short-term beneficial effects shown in the MCI186-ALS19 study subpopulation which was expected. <h3>Objective</h3> To evaluate long-term safety and effectiveness of intravenous therapy ALS real-world clinical setting. <h3>Design, Setting, Participants</h3> Multicenter, propensity score–matched cohort conducted between June...
In amyotrophic lateral sclerosis (ALS) caused by superoxide dismutase 1 (SOD1) gene mutations (SOD1-ALS), the antisense oligonucleotide tofersen had been investigated in a phase III study (VALOR) and subsequently introduced an expanded access program. this we assess neurofilament light chain (NfL) before during treatment. six SOD1-ALS patients treated with at three specialized ALS centers Germany, NfL cerebrospinal fluid (CSF-NfL) and/or serum (sNfL) were using Functional Rating Scale...
In April 2023, the antisense oligonucleotide tofersen was approved by U.S. Food and Drug Administration (FDA) for treatment of
Abstract Background This update of the guideline on management amyotrophic lateral sclerosis (ALS) was commissioned by European Academy Neurology (EAN) and prepared in collaboration with Reference Network for Neuromuscular Diseases (ERN EURO‐NMD) support Cure ALS (ENCALS) Organization Professionals Patients (EUpALS). Methods Grading Recommendations Assessment, Development, Evaluation (GRADE) methodology used to assess effectiveness interventions ALS. Two systematic reviewers from Cochrane...
Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period 16 months relatively large cohorts but whereas patients reach plateau over time is still be demonstrated. We investigated and safety SMA 38 months, longest date cohort from multiple clinical sites. Our prospective, observational study included adult Germany, Switzerland, Austria (July 2017 May 2022). All participants had genetically-confirmed, were treated...
Abstract Mitochondrial respiratory chain dysfunction, impaired intracellular Ca 2+ homeostasis and activation of the mitochondrial apoptotic pathway are pathological hallmarks in animal cellular models familial amyotrophic lateral sclerosis associated with Cu/Zn‐superoxide dismutase mutations. Although is thought to be intimately functions, temporal causal correlation between uptake dysfunction motor neuron death remains established. We investigated handling isolated brain, spinal cord liver...
Nrf2 (nuclear erythroid 2-related factor 2) is a basic region leucine-zipper transcription which binds to the antioxidant response element (ARE) and thereby regulates expression of large battery genes involved in cellular anti-inflammatory defence as well mitochondrial protection. As oxidative stress, inflammation dysfunctions have been identified important pathomechanisms amyotrophic lateral sclerosis (ALS), this signaling cascade has gained interest both with respect ALS pathogenesis...
There is substantial evidence that both inflammation and oxidative damage contribute to the pathogenesis of motor neuron degeneration in G93A SOD1 transgenic mouse model amyotrophic lateral sclerosis (ALS). Celastrol a natural product from Southern China, which exerts potent anti-inflammatory antioxidative effects. It also acts potently increase expression heat shock proteins including HSP70. We administered it diet mice starting at 30 days age. treatment significantly improved weight loss,...