A5035612494- Nuclear Structure and Function
- RNA Research and Splicing
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- Muscle Physiology and Disorders
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Railway Engineering and Dynamics
- Mitochondrial Function and Pathology
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- DNA Repair Mechanisms
- Nutrition and Health in Aging
- Cardiomyopathy and Myosin Studies
- Railway Systems and Energy Efficiency
- CRISPR and Genetic Engineering
- Laser-induced spectroscopy and plasma
- Child Nutrition and Feeding Issues
- Soil Mechanics and Vehicle Dynamics
- Cerebral Palsy and Movement Disorders
- Neurogenetic and Muscular Disorders Research
- Railway Systems and Materials Science
- Vitamin K Research Studies
- Fluid Dynamics and Turbulent Flows
- Carbohydrate Chemistry and Synthesis
- Transport and Logistics Innovations
LMU Klinikum
2018-2025
Ludwig-Maximilians-Universität München
2016-2025
Friedrich Baur Stiftung
2016-2024
Wellcome Centre for Cell Biology
2013-2019
University of Edinburgh
2013-2019
Institute of Cell Biology
2013-2018
Universität Greifswald
2011-2014
Edinburgh College
2013
Universitätsmedizin Greifswald
2013
Institut für Angewandte Trainingswissenschaft
2008
Proteins of the nuclear envelope (NE) are associated with a range inherited disorders, most commonly involving muscular dystrophy and cardiomyopathy, as exemplified by Emery-Dreifuss (EDMD). EDMD is both genetically phenotypically variable, some evidence modifier genes has been reported. Six have so far linked to EDMD, four encoding proteins LINC complex that connects nucleus cytoskeleton. However, 50% patients no identifiable mutations in these genes. Using candidate approach, we identified...
Myotonic dystrophies (DM) are slowly progressing multisystemic disorders caused by repeat expansions in the DMPK or CNBP genes. The involvement DM patients often reflects appearance of accelerated aging. This is partly due to visible features such as cataracts, muscle weakness, and frontal baldness, but there also less obvious like cardiac arrhythmia, diabetes hypogammaglobulinemia. These aging suggest hypothesis that could be a segmental progeroid disease. To identify molecular cause this...
Sarcopenia is a common geriatric syndrome and can lead to falls fragility fractures. It associated with decline of muscle fiber numbers size. Muscle biopsies the vastus lateralis were taken from thirty-two patients hip fracture (18 women 14 men; mean age: 82.2 ± 6.2 years). Serial cross sections skeletal labeled myosin heavy chain slow (fiber type-1) fast type-2) antibodies in order measure size, ratio percentage mixed types. The presence sarcopenia was defined according EWGSOP2 criteria by...
Hereditary angioedema (HAE) is characterized by recurrent localized edema in various organs, which can be potentially fatal. There are different types of hereditary angioedema, include genetic deficiency C1 inhibitor (C1-INH) and with normal C1-INH (HAEnCI). In HAEnCI patients mutations have been identified the F12 , PLG KNG1 ANGPT1 MYOF HS3ST6 genes. The release bradykinin from kininogen via kallikrein-kinin system (KKS) has shown to main mediator HAE-FXII, but for HAE-PLG there only first...
BackgroundAs genome-wide approaches prove difficult with genetically heterogeneous orphan diseases, we developed a new approach to identify candidate genes. We applied this Emery-Dreifuss muscular dystrophy (EDMD), characterised by early onset contractures, slowly progressive wasting, and life-threatening heart conduction disturbances wide intra- inter-familial clinical variability. Roughly half of EDMD patients are linked six genes encoding nuclear envelope proteins, but the disease...
Genetic deficiency of acid a-glucosidase (GAA) results in Pompe disease (PD) encompassing four clinical subtypes varying severity. Our objective is to develop an innovative and affordable approach for enzyme replacement therapy (ERT) through oral administration (Oral-ERT) maintain a sustained therapeutic level daily improve treatment efficacy. Tobacco seeds contain the metabolic machinery compatible with mammalian glycosylation-phosphorylation. We have shown that transgenic tobacco...
Background/Objectives: Missplicing caused by toxic DMPK-mRNA is described as a hallmark of myotonic dystrophy type 1 (DM1). Yet, there an expressional misregulation additional splicing factors in DM1, and missplicing has been observed other myopathies. Here, we compare the resulting profiles between three different hereditary Methods: We used publicly available RNA-sequencing datasets for muscular dystrophies—DM1, facioscapulohumeral (FSHD) Emery–Dreifuss (EDMD)—to factor expression...
Einleitung: Die myotone Dystrophie Typ 1 (DM1) wird durch eine CTG-Repeat-Expansion im DMPK-Gen verursacht. Skelettmuskulatur gehört zu den bei DM1 am stärksten betroffen Geweben. Da die Rolle einzelner Zelltypen bisher nicht geklärt ist, haben wir DM1-Muskelbioptate mittels Single-Nuclei RNA-Sequenzierung (snRNAseq) untersucht.
Mutations in several genes encoding nuclear envelope (NE) associated proteins cause Emery-Dreifuss muscular dystrophy (EDMD). We analyzed fibroblasts from a patient who had mutation the EMD gene (p.L84Pfs*6) leading to loss of Emerin and heterozygous SUN1 (p.A203V). The second harbored LAP2alpha (p.P426L) further (p.A614V). p.A203V is located N-terminal domain facing nucleoplasm situated vicinity Nesprin-2 binding site. p.A614V precedes SUN domain, which interacts with KASH Nesprins...
Changes in the peripheral distribution and amount of condensed chromatin are observed a number diseases linked to mutations lamin A protein nuclear envelope. We postulated that interactions with envelope transmembrane proteins (NETs) affect structure might be altered these so screened thirty-one NETs for those promote compaction as determined by an increase clusters high pixel intensity. One these, NET23 (also called STING, MITA, MPYS, ERIS, Tmem173), strongly promoted compaction....
Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of acid alpha-glucosidase (GAA). The result the GAA a ubiquitous and non-lysosomal accumulation glycogen. most affected tissues are heart, skeletal muscle, liver, nervous system. Replacement therapy with currently approved enzyme relies on M6P-mediated endocytosis. However, therapeutic outcomes still leave room for improvement, especially regard to muscles. We tested uptake, activity, effect glucose...
Abstract Background Glucocorticoids play a significant role in metabolic processes and pathways that impact muscle size, mass, function. The expression of 11-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) has been previously described as major regulator skeletal function glucocorticoid-induced atrophy aging humans. Our study aimed to investigate glucocorticoid metabolism, including the HSD11B1 muscle, patients with sarcopenia. Methods Muscle biopsies were taken from vastus lateralis...