Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant
I Bendikov-Bar, I Ron, M Filocamo… - Blood Cells, Molecules …, 2011 - Elsevier
A large number of mutations in the glucocerebrosidase gene (GBA gene), encoding the
lysosomal acid hydrolase glucocerebrosidase (GCase), lead to Gaucher disease (GD). The
second most prevalent GD causing mutation, carried by 38% of non-Jewish patients, is
L444P, resulting from a T to C transition in nucleotide 6092 of the GBA gene. It is a severe
mutation that, in homozygosity, leads to neuropathic type 3 GD. We have previously shown
that mutant GCase variants present variable degrees of endoplasmic reticulum (ER) …
lysosomal acid hydrolase glucocerebrosidase (GCase), lead to Gaucher disease (GD). The
second most prevalent GD causing mutation, carried by 38% of non-Jewish patients, is
L444P, resulting from a T to C transition in nucleotide 6092 of the GBA gene. It is a severe
mutation that, in homozygosity, leads to neuropathic type 3 GD. We have previously shown
that mutant GCase variants present variable degrees of endoplasmic reticulum (ER) …
