Where is Pdgfrb expressed?
PDGFRB is extensively expressed in the neurons, chorioid plexus, vascular smooth muscle cells, and pericytes of the human brain, particularly the basal ganglia and the dentate nucleus.
What does PDGFRB do?
The PDGFRB gene provides instructions for making a protein called platelet-derived growth factor receptor beta (PDGFRβ), which is part of a family of proteins called receptor tyrosine kinases. Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction.
Is basal ganglia calcification genetic?
Inherited Congenital or Early-Onset Syndromes. Calcifications in the basal ganglia and other brain structures are observed in several congenital or early-onset syndromes with normal calcium-phosphorus metabolism and are frequently associated with intellectual disability.
What is the secondary function of platelets carried out by PDGF?
Platelet-Derived Growth Factor (PDGF) PDGF stimulates the growth of its target cells, but also affects chemotaxis, i.e., directed cell movement, and cell shape through reorganization of the actin filament system.
Where are basal ganglia located?
The term basal ganglia in the strictest sense refers to nuclei embedded deep in the brain hemispheres (striatum or caudate-putamen and globus pallidus), whereas related nuclei consist of structures located in the diencephalon (subthalamic nucleus), mesencephalon (substantia nigra), and pons (pedunculopontine nucleus).
Can brain calcification cause seizures?
Perivascular calcifications within the brain form in response to a variety of insults. While considered by many to be benign, these calcium phosphate deposits or “brain stones” can become large and are associated with neurological symptoms that range from seizures to parkinsonian symptoms.
Where is VEGFR?
Within the blood compartment, VEGF is mostly concentrated in the platelets, although a significant portion was localised in leukocytes during cancer development. Large quantities of VEGF were reported in tumour and skeletal muscle, the latter of which suggested an intracellular VEGF source.
Where is PDGF found?
PDGF is stored in platelet granules and, as such, it can act as a systemic regulator of cell function. In humans, the circulating forms of PDGF are, for the most part, PDGF BB and AB (98). Osteoblasts and osteosarcoma cells express the PDGF A and B genes (99–101).
Where is PDGF from?
PDGF is synthesized in bone marrow megakaryocytes, stored in α-granules and secreted by platelets upon activation, which triggers fibroblast activity. The protein is also released by various other cells in human body, including endothelial, epithelial, glial and inflammatory cells (Demoulin and Essaghir, 2014).
Where is PDGFRB located on the human chromosome?
The PDGFRB gene is located on human chromosome 5 at position q32 (designated as 5q32) and contains 25 exons. The gene is flanked by the genes for granulocyte-macrophage colony-stimulating factor and Colony stimulating factor 1 receptor (also termed macrophage-colony stimulating factor receptor), all three of which may be lost together by…
What does the PDGFRB gene do?
Learn more The PDGFRB gene provides instructions for making a protein called platelet-derived growth factor receptor beta (PDGFRβ), which is part of a family of proteins called receptor tyrosine kinases. Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction.
What are the major phosphorylation sites for PDGFRβ?
Tyrosine residues 857 and 751 are major phosphorylation sites for the activation of PDGFRβ. The molecular mass of the mature, glycosylated PDGFRβ protein is approximately 180 kDa.
How does PDGF bind to the receptor?
Upon PDGF binding the dimerization of receptor releases the inhibitory conformations due to auto-phosphorylation of regulatory tyrosine residues in trans fashion. Tyrosine residues 857 and 751 are major phosphorylation sites for the activation of PDGFRβ. The molecular mass of the mature, glycosylated PDGFRβ protein is approximately 180 kDa.