A5083365531- Genetic Neurodegenerative Diseases
- Biochemical and Molecular Research
- Bacteriophages and microbial interactions
- Muscle Physiology and Disorders
- Celiac Disease Research and Management
- Renal Diseases and Glomerulopathies
- Monoclonal and Polyclonal Antibodies Research
- Genomics and Rare Diseases
- Glycosylation and Glycoproteins Research
- Ion Transport and Channel Regulation
- Cardiomyopathy and Myosin Studies
- Cellular transport and secretion
University of Bonn
2020-2023
Lund University
2018
Abstract Filamin-A-interacting protein 1 (FILIP1) is a structural that involved in neuronal and muscle function integrity interacts with FLNa FLNc. Pathogenic variants filamin-encoding genes have been linked to neurological disorders (FLNA) diseases characterized by myofibrillar perturbations (FLNC), but human associated FILIP1 not yet described. Here, we report on five patients from four unrelated consanguineous families homozygous (two nonsense two missense). Functional studies indicated...
Protein-based encapsulation systems have a wide spectrum of applications in targeted delivery cargo molecules and for chemical transformations confined spaces. By engineering affinity between container proteins it has been possible to enable the efficient specific target molecules. Missing current approaches is ability turn off interaction after freely diffuse lumen container. Separation desirable drug use capsids as catalytic nanoparticles. We describe an system based on hepatitis B virus...
Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in glomerular podocyte, rendering SRNS a "podocytopathy."We performed whole-exome sequencing (WES) 1200 (NS) patients.We discovered homozygous truncating and missense mutation SYNPO2 (synaptopodin-2) (p.Lys1124∗ p.Ala1134Thr) 2 patients with childhood-onset NS. We found expression both podocytes mesangial cells; however, notably, immunofluorescence staining adult human...
Synaptopodin-2 (SYNPO2) is a protein associated with the Z-disc in striated muscle cells. It interacts α-actinin and filamin C, playing role maintenance under stress by chaperone-assisted selective autophagy (CASA). In smooth cells, SYNPO2 component of dense bodies. Furthermore, it has been proposed to play tumor cell proliferation metastasis many different kinds cancers. Alternative transcription start sites alternative splicing predict expression six putative isoforms differing extended...
Abstract Protein‐based encapsulation systems have a wide spectrum of applications in targeted delivery cargo molecules and for chemical transformations confined spaces. By engineering affinity between container proteins it has been possible to enable the efficient specific target molecules. Missing current approaches is ability turn off interaction after freely diffuse lumen container. Separation desirable drug use capsids as catalytic nanoparticles. We describe an system based on hepatitis...