Publications by authors named "Emma L Barker"
Am J Hum Genet
December 2020
Article Synopsis
- Heparan sulfate is a type of glycosaminoglycan involved in various biological processes, and HS2ST1 is an enzyme crucial for its synthesis by adding sulfate groups to its sugar structure.
- Four individuals from three different families exhibited mutations in HS2ST1, leading to distinctive facial features, developmental delays, and other health issues such as kidney problems and skeletal abnormalities.
- The study showed that these mutations reduce the production of HS2ST1, impair heparan sulfate function, and disrupt signaling pathways, highlighting the importance of heparan sulfate in proper development of the nervous system, skeleton, and kidneys.
