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This gene provides instructions for making calcium/calmodulin dependent serine protein kinase (CASK), a protein that is essential for brain function. CASK, being a multidomain protein, is found to interact with multiple molecules including neurexin, [ 10 ] syndecan [ 11 ] and Mint1, [ 12 ] playing an important synaptic function, and also ...
Phosphatidylserine (PS) is the major acidic phospholipid class that accounts for 13–15% of the phospholipids in the human cerebral cortex. [7] In the plasma membrane, PS is localized exclusively in the cytoplasmic leaflet where it forms part of protein docking sites necessary for the activation of several key signaling pathways.
These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition, in patients with 3-phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L-serine, sometimes combined with glycine.
There are a variety of symptoms that can occur in children. Infants with microcephaly are born with either a normal or reduced head size. [ 10 ] Subsequently, the head fails to grow, while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp . [ 11 ]
This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [7]
Symptoms typically appear at about 5 to 24 months of age. [3] [2] Without treatment there may be poor muscle tone, trouble with coordination, trouble talking, and seizures. [3] One cause of cerebral folate deficiency is a mutation in a gene responsible for folate transport, specifically FOLR1. [2] [4] This is inherited in an autosomal recessive ...
What Are the Symptoms of RSV in Older Adults? Symptoms of RSV can range from mild to severe. Dr. Elizalde says that mild RSV symptoms can include a runny nose, sore throat, coughing, sneezing and ...
D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine.