Publications by authors named "Philip D Neill"
Article Synopsis
- Cystathionine beta-synthase-deficient homocystinuria (HCU) is a serious disorder affecting sulfur metabolism, where treatment with betaine is less effective in mice showing low levels of tetrahydrofolate (THF).
- Mice models of HCU displayed a significant accumulation of certain metabolites and a repressed expression of the enzyme dihydrofolate reductase (DHFR), which is necessary for THF generation and metabolic processes.
- The dysfunction in one-carbon metabolism in HCU not only reduces the effectiveness of betaine treatment but also contributes to complications such as decreased nitric oxide (NO) levels, indicating broader implications for disease pathogenesis.
