Publications by authors named "Desiree Ec Smith"
Article Synopsis
- Sulfate is crucial for various body functions, particularly in maintaining bone and cartilage health, and the transporter SLC26A1 is central to sulfate reabsorption in the kidneys.
- A unique mutation in SLC26A1 was discovered in a patient with specific health issues, and further studies showed a link between harmful SLC26A1 variants and low plasma sulfate levels in a large population.
- The findings underscore SLC26A1's significance in sulfate balance, suggesting it could be a target for improving musculoskeletal health, especially relating to conditions like back pain.
We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the function of aspartoacylase-the hydrolysis of N-acetyl-l-aspartic acid (NAA) to aspartate and acetate. The wild-type ASPA open reading frame (ORF) and the ORFs containing each of the variants were transfected into HEK293 cells.
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