A5060370559- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- 3D Printing in Biomedical Research
- Viral Infectious Diseases and Gene Expression in Insects
- Single-cell and spatial transcriptomics
- Neurogenesis and neuroplasticity mechanisms
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- RNA regulation and disease
- Pancreatic function and diabetes
- Biomedical Ethics and Regulation
- Mesenchymal stem cell research
- Neuroinflammation and Neurodegeneration Mechanisms
- Hedgehog Signaling Pathway Studies
- Alzheimer's disease research and treatments
- Neuroscience and Neural Engineering
- Genetics and Neurodevelopmental Disorders
- Neurological Disease Mechanisms and Treatments
- Genomic variations and chromosomal abnormalities
Karolinska Institutet
2017-2024
Royan Institute
2011
Academic Center for Education, Culture and Research
2011
Alzheimer's disease (AD) and Parkinson's (PD) are characterized by brain accumulation of aggregated amyloid-beta (Aβ) alpha-synuclein (αSYN), respectively. In order to develop effective therapies, it is crucial understand how the Aβ/αSYN aggregates can be cleared. Compelling data indicate that neuroinflammatory cells, including astrocytes microglia, play a central role in pathogenesis AD PD. However, interplay between two cell types affects their clearing capacity consequently progression...
We generated human iPS derived neural stem cells and differentiated from healthy control individuals an individual with autism spectrum disorder carrying bi-allelic NRXN1-alpha deletion. investigated the expression of during induction differentiation observed a pivotal role for early neuronal differentiation. Single cell RNA-seq pinpointed deletion shifting towards radial glia-like identity revealed higher proportion astroglia. Furthermore, were identified as immature by single analysis,...
Significance Here we describe and utilize a model of medulloblastoma, malignancy accounting for 20% all childhood brain cancers. We used iPS-derived neural stem cells with familial mutation causing aberrant SHH signaling. show that these cells, when transplanted into mouse cerebellum, form tumors mimics SHH-driven demonstrating the development cancer from healthy in vivo. Our results reprogramming somatic carrying mutations can be to initiation progression cancer.
Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U (HNRNPU) have been identified in several neurodevelopmental disorders (NDDs). HNRNPU is widely expressed the human brain and shows highest postnatal expression cerebellum. Recent studies investigated role of cerebral cortical development, but effects deficiency on cerebellar development remain unknown. Here, we describe molecular cellular outcomes locus during vitro neural differentiation patient-derived isogenic...
Abstract The clinical translation of induced pluripotent stem cells (iPSCs) holds great potential for personalized therapeutics. However, one the main obstacles is that current workflow to generate iPSCs expensive, time‐consuming, and requires standardization. A simplified cost‐effective microfluidic approach presented reprogramming fibroblasts into their subsequent differentiation neural (NSCs). This method exploits microphysiological technology, providing a 100‐fold reduction in reagents...
The etiology of hereditary ataxia syndromes is heterogeneous, and the mechanisms underlying these disorders are often unknown. Here, we utilized exome sequencing in two siblings with progressive muscular weakness identified a novel homozygous splice mutation (c.3020-1G > A) neurofascin (NFASC). In RNA extracted from fibroblasts, showed that resulted inframe skipping exon 26, deprived expression full-length transcript corresponds to NFASC isoform NF186. To further investigate disease...
Induced pluripotent stem cells (iPSCs) from patients are an attractive disease model to study tissues with poor accessibility such as the brain. Using this approach, we and others have shown that trisomy 21 results in genome-wide transcriptional dysregulations. The effects of loss genes on chromosome is much less characterized. Here, use patient-derived neural individual neurodevelopmental delay a ring two deletions spanning 3.8 Mb at terminal end 21q22.3, containing 60 protein-coding genes....
ABSTRACT Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U (HNRNPU) have been identified in several neurodevelopmental disorders (NDDs). HNRNPU is widely expressed the human brain and shows highest postnatal expression cerebellum. Recent studies investigated role of cerebral cortical development, but effects deficiency on cerebellar development remain unknown. Here, we describe molecular cellular outcomes locus during vitro neural differentiation patient-derived isogenic...