A5003778169- Genetic Neurodegenerative Diseases
- Monoclonal and Polyclonal Antibodies Research
- Mitochondrial Function and Pathology
- Chronic Lymphocytic Leukemia Research
- Parkinson's Disease Mechanisms and Treatments
- Genetics and Neurodevelopmental Disorders
- Pluripotent Stem Cells Research
- Protein Structure and Dynamics
- Bioinformatics and Genomic Networks
- Immunodeficiency and Autoimmune Disorders
- RNA Research and Splicing
- Nuclear Receptors and Signaling
- Machine Learning in Bioinformatics
- Lymphoma Diagnosis and Treatment
Centre for Research and Technology Hellas
2022-2025
Protein-protein interactions (PPIs) form a complex network called "interactome" that regulates many functions in the cell. In recent years, there is an increasing accumulation of evidence supporting existence hyperbolic geometry underlying representation systems such as interactome. particular, it has been shown embedding human Protein-Interaction Network (hPIN) space (H2) captures biologically relevant information. Here we explore whether this mapping contains information would allow us to...
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by polyglutamine expansion in the ataxin‐1 protein resulting neuropathology including mutant aggregation, aberrant neurodevelopment, and mitochondrial dysfunction. Objectives Identify SCA1‐relevant phenotypes patient‐specific fibroblasts SCA1 induced pluripotent stem cells (iPSCs) neuronal cultures. Methods iPSCs were generated differentiated into Protein aggregation morphology evaluated using...
Abstract Expansion of the glutamine tract (poly-Q) in protein huntingtin (HTT) causes neurodegenerative disorder Huntington’s disease (HD). Emerging evidence suggests that mutant HTT (mHTT) disrupts brain development. To gain mechanistic insights into neurodevelopmental impact human mHTT, we engineered male induced pluripotent stem cells to introduce a biallelic or monoallelic 70Q expansion remove poly-Q HTT. The introduction mutation caused aberrant development cerebral organoids with loss...
Background Microenvironmental interactions of the malignant clone with T cells are critical throughout natural history chronic lymphocytic leukemia (CLL). Indeed, clonal expansions and shared clonotypes exist between different CLL patients, strongly implying selection by antigens. Moreover, immunogenic neoepitopes have been isolated from clonotypic B cell receptor immunoglobulin sequences, offering a rationale for immunotherapeutic approaches. Here, we interrogated (TR) gene repertoire...
Classification of patients with chronic lymphocytic leukemia (CLL) based on the somatic hypermutation (SHM) status clonotypic immunoglobulin heavy variable (IGHV) gene has established predictive and prognostic relevance. The SHM is assessed number mutations within IG domain sequence, albeit only over rearranged IGHV excluding complementarity determining region 3 (VH CDR3). This may lead to an underestimation actual impact SHM, in fact overlooking most critical for antigen-antibody...