Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...
Morning Overview on MSN
This rare mutation destroys brain cells, scientists found the cause
Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...
Unstable proteins are the main drivers of many different heritable diseases, according to a new study, including genetic disorders responsible for the formation of cataracts, and different types of ...
Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...
Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...
CFTR is a protein essential to wet surfaces throughout your body, like the airways of your lungs. People with cystic fibrosis have a gene mutation that causes problems with the protein. Some ...
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