A5012349202- Amyotrophic Lateral Sclerosis Research
- HIV Research and Treatment
- Spinal Cord Injury Research
- Advanced biosensing and bioanalysis techniques
- Biochemical Acid Research Studies
- Ubiquitin and proteasome pathways
- Neurogenetic and Muscular Disorders Research
- Chromosomal and Genetic Variations
- Peptidase Inhibition and Analysis
- CRISPR and Genetic Engineering
- Prion Diseases and Protein Misfolding
Boğaziçi University
2022-2024
CRISPR/Cas9 is a popular genome editing technology. Although widely used, little known about how this prokaryotic system behaves in humans. An unwanted consequence of eukaryotic Cas9 expression off-target DNA binding leading to mutagenesis. Safer clinical implementation necessitates finer understanding the regulatory mechanisms governing behavior Here, we report our discovery sumoylation and ubiquitylation, first post-translational modifications be described on enzyme. We found that major...
SOD1 is the first identified causative gene for amyotrophic lateral sclerosis. Recently, a novel syndrome, presenting with severe childhood-onset spastic tetraplegia and axial hypotonia caused by homozygous truncating variants in gene, described. A 22-month-old boy was admitted loss of motor functions that began at age 9 months. Neurological significant hyperekplexia-like jerky movements. In WES, we found variant (c.52_56del5ins154) resulting total mRNA expression real-time PCR analysis....
During infection, the human immunodeficiency virus type 1 (HIV-1) manipulates host cell mechanisms to its advantage, thereby controlling replication or latency, and evading immune responses. Sumoylation is an essential post-translational modification that controls vital cellular activities including proliferation, stemness, anti-viral immunity. SUMO peptides oppose pathogen mediate interferon-dependent activities. In turn, several viruses bacteria attack sumoylation disarm Here, we show...
ABSTRACT Germinal mono-allelic loss-of-function mutations of NEK1 drive Amyotrophic Lateral Sclerosis (ALS) at variable penetrance, potentially through haploinsufficiency. Modeling the ALS-associated Arg812Ter mutation in mice revealed that resulting truncated (NEK1 t ) is aggregation-prone, notably alpha-motoneurons (αMNs), and drives multiple ALS-like symptoms when bi-allelically expressed. Promyelocytic leukemia ( Pml a key genetic interactor, since its loss allows for ALS to occur even...