The SMN protein localizes to both the cytoplasm and the nuclear bodies. One hallmark of spinal muscular atrophy is the failure of SMN to localize within these nuclear bodies.

Data from the SAPPHIRE study formed the basis of Scholar Rock's U.S. Food and Drug Administration request to approve ...

This protein is critical for motor neurons to make proteins and grow the "wires" that send signals out to the muscles. When the SMN1 gene is mutated, the body cannot make enough SMN protein ...

Doctors in the US have treated a fetus with a rapidly progressive congenital disease while in the uterus for the very first ...

A child with a rare genetic disorder — spinal muscular atrophy type I — was treated prenatally for the first time. Courtesy of Jakob Owens  via Unsplash During an amniocentesis test, a long, thin ...

After five years of Evrysdi, people with SMA types 2 and 3 are continuing to show stabilization and improvement in motor ...

Risdiplam works by targeting the SMN2 gene to induce increased production of the survival motor neuron (SMN) protein; a deficiency of this protein is what causes the most common forms of SMA.

It has five subtypes, of which type 1 is considered to be the most severe; people with this form have a mutation in both copies of a gene called SMN1, which encodes a protein called SMN that ...

The doctors found that the infant had higher levels of SMN protein and less nerve damage than other babies born with SMA type 1. In the months since her birth has shown no signs of abnormal muscle ...

Scholar Rock (NASDAQ: SRRK), a late-stage biopharmaceutical company focused on advancing innovative treatments for ...