GBA1 encodes the lysosomal enzyme, beta-glucocerebrosidase
, or GCase.
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 2007;131:770-83.
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase. Hum Mol Genet 2010;19:563-72.
Kolodny, "The enigma of the E326K mutation in acid beta-glucocerebrosidase
," Molecular Genetics and Metabolism, vol.
Indeed, life may be tough for individuals who suffer from Gaucher's disease, a rare and inherited disorder wherein the deficiency of enzyme called beta-glucocerebrosidase
(that is produced in our cells) results in the accumulation of a fatty substance called glucocerebroside into a sugar and a simpler fat molecule throughout the body, more often in the bone marrow, spleen and liver.
No clinically applicable genotypic or CSF markers exist to support a DLB diagnosis, but there are many promising candidates, including elevated levels of CSF p-tau 181, CSF levels of alpha-and beta-synuclein, (12) and CSF beta-glucocerebrosidase
Gaucher disease is a genetically determined deficiency of the enzyme beta-glucocerebrosidase
. Genzyme manufactures Cerezyme, an enzyme-replacement therapy for the treatment of Gaucher disease.
GBA encodes a lysosomal enzyme, beta-glucocerebrosidase