A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

In humans, hundreds of proteins interact in a complex network dubbed the interactome. Those interactions are further complicated when disease-causing mutations are introduced into genes that code for ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...

A microscopic flaw in the brain’s cellular scaffolding can shape brain size for life.

Scientists at the Baylor College of Medicine say they have developed an artificial intelligence (AI) model that reveals how protein modifications link genetic mutations to disease. The method, called ...

Researchers discovered that a tiny structural feature of the enzyme GPX4 helps keep neurons safe. A rare mutation removes this protection, allowing harmful molecules to damage cell membranes and ...

Sickle cell diseases arises from hemoglobin protein mutations. The mutation causes red blood cells to form a sickle shape rather than a round one. One study suggests that this mutation could be ...

GRB2-SH3 is a protein with 34 amino acids, each which can be mutated into 19 different amino acids. This can result in 17 billion different combinations of the protein if only a single change allowed ...

Scientists discovered a small protein region that determines whether plants reject or welcome nitrogen-fixing bacteria. By tweaking only two amino acids, they converted a defensive receptor into one ...

In a study published in The Journal of Clinical Investigation, University of Michigan researchers found a new protein target ...