A5035713906- Ubiquitin and proteasome pathways
- RNA Research and Splicing
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Cardiovascular Effects of Exercise
- Autophagy in Disease and Therapy
- Endoplasmic Reticulum Stress and Disease
- Skin and Cellular Biology Research
- Chronic Lymphocytic Leukemia Research
- Cellular Mechanics and Interactions
- Protein Tyrosine Phosphatases
- Toxoplasma gondii Research Studies
- RNA regulation and disease
- Virus-based gene therapy research
University Medical Center Hamburg-Eppendorf
2020-2024
Universität Hamburg
2020-2024
German Centre for Cardiovascular Research
2022
Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2 gene variant, hypertrophic cardiomyopathy, and characterized by an electro-mechanical phenotype human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). Here, we created CRISPR/Cas9 genetic tools two functional knock-out hiPSC lines second wild-type (ACTN2wt) (ACTN2mut) allele, respectively. evaluated their impact on...
The ubiquitin-proteasome system (UPS) and autophagy-lysosomal pathway (ALP) are two major protein degradation pathways in eukaryotic cells. Initially considered as independent pathways, there is emerging evidence that they can work concert. As alterations of UPS ALP function contribute to neurodegenerative disorders, cancer cardiac disease, great interest finding targets modulate these catabolic processes. We undertook an unbiased, total genome high-throughput screen identify novel effectors...
Abstract Rationale Protein accumulation is a hallmark of many neurodegenerative and muscular diseases. Desmin-related (cardio-) myopathy (DRM), well-studied model for cardiac muscle protein accumulation, an autosomal dominant-inherited disease presenting with progressive weakness, reduced quality life, shortened life span. To date, DRM patients are treated symptomatically there no causal treatment available. Independent the genetic cause, most display intracellular desmin its chaperone...
Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced homozygous c.358G>A (p.Arg120Gly) mutation, which is established for the study of DRM mice, into donor human induced pluripotent stem cell (hiPSC) line. Control and mutant hiPSCs were tested karyotype integrity pluripotency marker expression. HiPSCs could be differentiated endoderm, ectoderm cardiomyocytes as mesodermal derivative vitro. CRYABhom...
Abstract Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2 gene variant, hypertrophic cardiomyopathy, and characterized by an electro-mechanical phenotype human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). Here, we created CRISPR/Cas9 genetic tools two functional knock-out hiPSC lines second wild-type (ACTN2wt) (ACTN2mut) allele, respectively. evaluated their...