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 ...