A5043366017- RNA regulation and disease
- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- Genetic and Kidney Cyst Diseases
- Vascular Malformations and Hemangiomas
- Genomics and Rare Diseases
- Pluripotent Stem Cells Research
- Neuroscience and Neural Engineering
- Genetic Syndromes and Imprinting
- Neuroscience and Neuropharmacology Research
- Medical Imaging and Pathology Studies
National Centre for Biological Sciences
2020-2024
<ns4:p>The development of the human brain involves multiple cellular processes including cell division, migration, and dendritic growth. These are triggered by developmental cues lead to interactions neurons glial cells derive final complex organization brain. Developmental transduced into through action intracellular second messengers calcium. Calcium signals in shaped large number proteins mutations several these have been reported patients with disorders. However, manner which such impact...
Human brain development is a complex process where multiple cellular and developmental events are coordinated to generate normal structure function. Alteration in any of these can impact development, manifesting clinically as neurodevelopmental disorders. genetic disorders lipid metabolism often present with features altered Lowe syndrome (LS) an X-linked recessive disease LS results from mutations OCRL1, which encodes phosphoinositide 5-phosphatase enzyme. However, the mechanisms by loss...
The activity of signaling pathways is required for coordinated cellular and physiological processes leading to normal development brain structure function. Mutations in OCRL, a phosphatidylinositol 4,5 bisphosphate [PIP2] 5-phosphatase leads the neurodevelopmental disorder, Lowe Syndrome (LS). However, mechanism by which mutations OCRL phenotypes LS not understood. We find that on differentiation patient derived iPSC, developing neural cultures show reduced excitability along with enhanced P...
Abstract Human brain development is a complex process where multiple cellular and developmental events are co-ordinated to generate normal structure function. Alteration in any of these can impact development, manifesting clinically as neurodevelopmental disorders. genetic disorders lipid metabolism often present with features altered Lowe syndrome (LS), X-linked recessive disease LS results from mutations OCRL1 that encodes phosphoinositide 5-phosphatase enzyme. However, the mechanisms by...