Liver-specific SMN1 gene therapy both improved liver functioning, and also reduced other SMA-like symptoms in a mouse model ...

Muscle fibers in children with SMA type 1 show substantial differences in components of the myosin protein called heavy ...

Here we assess the correlation between individual patient SMN protein level and observed efficacy. Risdiplam’s mode of action was confirmed by the shift from SMN2Δ7 mRNA to full-length mRNA. Risdiplam ...

However, by the time this protein aggregation develops, the damage is well underway ... Interestingly, SmD1 is a survival of ...

Evrysdi is designed to treat SMA by increasing production of the survival of the motor neuron (SMN) protein. SMN protein is found throughout the body and is critical for maintaining healthy motor ...

New research suggests previous assumptions about the pathogenesis of spinal muscular atrophy (SMA) are inadequate.

SMA is a rare neuromuscular disease caused by a mutation in the SMN1 gene, which codes for a protein called SMN that is essential for the survival of motor neurons. The mutation means that no ...

while Biogen’s antisense drug Spinraza instructs the body to produce a working version of the SMN protein that is the root cause of the disease. Latest data came from Part 2 of the FIREFISH ...

Scholar Rock Holding Corp (SRRK) reports significant progress in its SAPPHIRE study and financial growth, setting the stage ...

A retrospective, single-center cohort study utilized liver ultrasound, serum collection, and proteome analysis to draw associations between spinal motor neuron (SMN) protein depletion and ...

Specificities were analysed by protein A−assisted immunoprecipitation ... Third, the nuclear dots pattern was associated with aAbs to survival of motor neuron (SMN) complex and a novel scleromyositis ...

Approximately 5,000 people in the U.S. develop amyotrophic lateral sclerosis (ALS) each year. On average, they survive for only two to five years after being diagnosed, according to the Centers for ...