Publications by authors named "Despina-Christina Pavlidou"
The non-essential amino acid L-serine is involved in a number of metabolic pathways and in the brain its level is largely due to the biosynthesis from the glycolytic intermediate D-3-phosphoglycerate by the phosphorylated pathway (PP). This cytosolic pathway is made by three enzymes proposed to generate a reversible metabolon named the "serinosome". Phosphoserine phosphatase (PSP) catalyses the last and irreversible step, representing the driving force pushing L-serine synthesis.
View Article and Find Full Text PDFConstitutional diseases of bone form a heterogeneous group of rare diseases of varied phenotypic presentations with a vast genetic heterogeneity. Detected mostly in childhood, they may also be diagnosed in adulthood. Medical history, clinical examination as well as biological and radiological investigations may lead to the diagnosis, which should be confirmed genetically.
View Article and Find Full Text PDFBackground: Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize available data on excess weight in adult PKU individuals.
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- MYBPC3 is the most commonly mutated gene linked to hypertrophic cardiomyopathy (HCM) and has multiple loss-of-function variants that show minimal impact on reproductive fitness across different regions.
- One notable variant, NM_000256.3:c.3330+2T > G, was initially found in severe HCM cases among Amish newborns but is also seen in adult HCM patients and has now been reported in Swiss families.
- The presence of this variant in various populations suggests a larger pool of asymptomatic carriers, indicating that those with severe early-onset symptoms might not represent the full scope of the variant's effect on health.