A5002878798- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- RNA Research and Splicing
- Congenital Anomalies and Fetal Surgery
- Plant biochemistry and biosynthesis
- Neurobiology and Insect Physiology Research
- Insect Resistance and Genetics
- Cancer-related gene regulation
Leipzig University
2021-2025
University of Bayreuth
2019
Leibniz Institute for Neurobiology
2019
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by varying degree of severity that correlates with the reduction SMN protein levels. Motor neuron degeneration and skeletal muscle are hallmarks SMA, but it unknown whether other mechanisms contribute to spectrum clinical phenotypes. Here, through combination physiological morphological studies in mouse models SMA patients, we identify dysfunction loss proprioceptive sensory synapses as key signatures pathology. We...
Abstract Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by varying degree of severity that correlates with the reduction SMN protein levels. Motor neuron degeneration and skeletal muscle are hallmarks SMA, but it unknown whether other mechanisms contribute to spectrum clinical phenotypes. Here, through combination physiological morphological studies in mouse models SMA patients, we identify dysfunction loss proprioceptive sensory synapses as key signatures...
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by reduced survival motor neuron (SMN) protein. Recently, SMN dysfunction has been linked to individual aspects of circuit pathology in severe SMA mouse model. To determine whether these mechanisms are conserved, we directly compared the three models. The SMNΔ7 model exhibits vast defects, including degeneration neurons, spinal excitatory synapses, and neuromuscular junctions (NMJs). In contrast, Taiwanese shows very mild...
Monogenic diseases are well-suited paradigms for the causal analysis of disease-driving molecular patterns. Spinal muscular atrophy (SMA) is one such monogenic model, caused by mutation or deletion survival motor neuron 1 (SMN1) gene. Although several functions SMN protein have been studied, single and pathways alone do not allow identification crucial molecules. Here, we analysed systemic characteristics SMA, using proteomics, phosphoproteomics, translatomics interactomics, from two mouse...
Animals of many species are capable “small data” learning, that is, learning without repetition. Here we introduce larval Drosophila melanogaster as a relatively simple study case for such one-trial learning. Using odor-food associative conditioning, first show sugar is both sweet and nutritious (fructose) sugars only (arabinose) or (sorbitol) all support appetitive The same the optogenetic activation subset dopaminergic neurons innervating mushroom body, memory center insects. In contrast,...
Plastin 3 (PLS3) is an F-actin-bundling protein that has gained attention as a modifier of spinal muscular atrophy (SMA) pathology. SMA lethal pediatric neuromuscular disease caused by loss or mutations in the Survival Motor Neuron 1 (SMN1) gene. Pathophysiological hallmarks are cellular maturation defects motoneurons prior to degeneration. Despite observed beneficial modifying effect PLS3, mechanism how it supports F-actin-mediated processes not yet well understood. Our data reveal...
Abstract Intercellular communication between axons and Schwann cells is critical for attaining the complex morphological steps necessary axon maturation. In early onset motor neuron disease spinal muscular atrophy (SMA), many are not ensheathed by nor grow sufficiently in radial diameter to become myelinated. These developmentally arrested dysfunctional vulnerable rapid degeneration, limiting efficacy of current SMA therapeutics. We hypothesized that accelerating maturation would improve...
The activation of the p53 pathway has been associated with neuronal degeneration in different neurological disorders, including spinal muscular atrophy (SMA) where aberrant expression drives selective death motor neurons destined to degenerate. Since direct inhibition is an unsound therapeutic approach due carcinogenic effects, we investigated cell death-associated downstream targets c-fos, perp and fas vulnerable SMA mice. Fluorescence situ hybridization (FISH) revealed c-fos RNA as a...