The enzyme, encoded by the GAA gene located on chromosome 17q25, is synthesized as a preproprotein composed of 952 amino acid residues, transported into the lumen of the endoplasmic reticulum, and ...

Different GAA gene variants may affect how much working GAA enzyme your body produces. People who have 1% or 2% of normal enzyme activity usually get Pompe disease as infants.

Young mice received an injection of AAVB1-GAA gene therapy, which delivers a normal copy of the gene for the lysosomal enzyme alpha glucosidase (GAA), which is mutated in Pompe disease, ...

However, people with Pompe disease have a mutation in the GAA gene, causing a reduction or complete elimination of the GAA enzyme. Read on to learn more about the types of Pompe disease, ...

Pompe disease is caused by a deficiency in the lysosomal enzyme acid α-glucosidase (GAA) that leads to accumulation of glycogen in the lysosomes, mainly seen in skeletal and cardiac muscles.

With the safety of gene therapies thrown into the spotlight by a series of FDA clinical holds, Astellas has said that an interim readout in a phase 1/2 trial of its Pompe disease candidate AT845 ...

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