A5061506333- Neuropeptides and Animal Physiology
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Tryptophan and brain disorders
- Peptidase Inhibition and Analysis
- Adipose Tissue and Metabolism
- Nerve injury and regeneration
- Microtubule and mitosis dynamics
- RNA Research and Splicing
- Parkinson's Disease Mechanisms and Treatments
- Developmental Biology and Gene Regulation
- Antimicrobial Peptides and Activities
- Autophagy in Disease and Therapy
- Silk-based biomaterials and applications
- Muscle Physiology and Disorders
- Neuroendocrine regulation and behavior
- melanin and skin pigmentation
- Sirtuins and Resveratrol in Medicine
- Pharmacological Effects and Assays
- Cell Image Analysis Techniques
- Pancreatic function and diabetes
- Protein Degradation and Inhibitors
- Advanced Fluorescence Microscopy Techniques
- Animal Vocal Communication and Behavior
- Biotin and Related Studies
Tel Aviv University
2014-2021
Human Factors (Norway)
2019
Abstract With Alzheimer’s disease (AD) exhibiting reduced ability of neural stem cell renewal, we hypothesized that de novo mutations controlling embryonic development, in the form brain somatic instigate disease. A leading gene presenting heterozygous dominant autism-intellectual disabilities (ID) causing is activity-dependent neuroprotective protein (ADNP), with intact ADNP protecting against AD-tauopathy. We discovered a genomic autism mutation (c.2188C>T) postmortem AD olfactory bulbs...
Abstract Mutations in ADNP have been recently associated with intellectual disability and autism spectrum disorder. However, the clinical features of patients this syndrome are not fully identified, no treatment currently exists for these patients. Here, we extended phenotype describing skin abnormalities both a patient an Adnp haploinsufficient mice. The displayed thin dermis, hyperkeratotic lesions periarticular areas delayed wound healing. Patient-derived keratinocytes showed reduced...
The activity-dependent neuroprotective protein (ADNP), a double-edged sword, sex-dependently regulates multiple genes and was previously associated with the control of early muscle development aging. Here we aimed to decipher involvement ADNP in versatile gene expression patterns correlation motor function throughout life. Using quantitative RT-PCR showed that Adnp+/− heterozygous deficiency mice resulted aberrant gastrocnemius (GC) muscle, tongue bladder expression, which corrected by Adnp...
Abstract Activity-dependent neuroprotective protein (ADNP) and its snippet NAP (drug candidate CP201) regulate synapse formation cognitive as well behavioral functions, in part, through microtubule interaction. Given potential interactions between the microbiome brain function, we now investigated effects of ADNP-deficient genotype, mimicking ADNP syndrome on microbiota composition Adnp +/– mouse model. We have discovered a surprising robust sexually dichotomized genotype effect correction...
Activity-dependent neuroprotective protein (ADNP) mutations are linked with cognitive dysfunctions characterizing the autistic-like ADNP syndrome patients, who also suffer from delayed motor maturation. We thus hypothesized that is deregulated in versatile myopathies and local muscle deficiency results myopathy, treatable by fragment NAP. Here, single-cell transcriptomics identified as a major constituent of developing human muscle. transcript concentrations further predicted multiple...