Supporting Rare Disease Research with the 2020 BeHEARD Awards
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Blog Post
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The Association for Creatine Deficiencies: Compensating for SLC6A8 mutations in Creatine Transporter...channels typically expressed on other cell types can compensate for or bypass the dysfunction of another solute...cells to identify any solute channels that can compensate for the defect caused by SLC6A8 deficiency. “...where one of the X chromosomes is partially or completely missing in women. Bicuspid aortic valve (an aortic...with an emphasis on oligomerization, signalling complex assembly, and localization to the nucleus,” says...at McGill University.
These protein-receptor complexes consist of many parts that work together on the...gene, which codes for G𝛃1 subunits of G protein complexes, lead to a rare type of developmental delay, and...