Research shows 60% of missense mutations destabilize proteins, linking protein folding to genetic diseases, including ...

Data from the first patients enrolled into Regenxbio's trial of its gene therapy for rare inherited disease mucopolysaccharidosis type I (MPS I) – also known as Hurler syndrome – has shown the ...

In one particular variant of this disease known as mucopolysaccharidosis I (MPS I), a deficiency of the enzyme alpha-L-iduronidase causes a build up of GAGs in tissues and organs, which in turn ...

In normal cells, correct segregation of chromosomes is ensured by an evolutionarily conserved surveillance signal transduction pathway called the mitotic spindle checkpoint TTK/Mps1, a dual ...

enabled us to file our BLA and may unlock the future accelerated approvals of a host of new therapies for these devastating MPS diseases that affect the brain.” Earlier this year, Ultragenyx ...