Assessment of cellular cobalamin metabolism in Gaucher disease.

Suelen Porto BasgaluppMarina SiebertCharles FerreiraSidney BehringerUte SpiekerkoetterLuciana HannibalIda Vanessa Doederlein Schwartz

Published in: BMC medical genetics (2020)

Our results indicate that cobalamin transport and cellular processing pathways are overall protected from lysosomal storage damage in GD fibroblasts. Extending these studies to hepatocytes, macrophages and plasma will shed light on cell- and compartment-specific vitamin B12 metabolism in Gaucher disease.

Keyphrases

replacement therapy
oxidative stress
cell therapy
stem cells
liver injury
mesenchymal stem cells
extracellular matrix
smoking cessation
case control
drug induced