TY - CHAP
T1 - Neuronal forms of gaucher disease
AU - Vitner, Einat B.
AU - Futerman, Anthony H.
N1 - Work in the Futerman laboratory on nGD has been generously supported for the past decade by the Children’s Gaucher Research Fund.
PY - 2013/3/7
Y1 - 2013/3/7
N2 - Gaucher disease is an inherited metabolic disease caused by the defective activity of the lysosomal enzyme, glucosylceramidase (GlcCerase), which is responsible for the last step in the degradation of complex glycosphingolipids. As a result, glucosylceramide (GlcCer) accumulates intracellularly. Little is known about the mechanisms by which GlcCer accumulation leads to Gaucher disease, particularly for the types of the disease in which severe neuropathology occurs. We now summarize recent advances in this area and in particular focus in the biochemical and cellular pathways that may cause neuronal defects. Most recent work has taken advantage of newly available mouse models, which mimic to a large extent human disease progression. Finally, we discuss observations of a genetic link between Gaucher disease and Parkinson's disease and discuss how this link has stimulated research into the basic biology of the previously underappreciated glycosphingolipid, GlcCer.
AB - Gaucher disease is an inherited metabolic disease caused by the defective activity of the lysosomal enzyme, glucosylceramidase (GlcCerase), which is responsible for the last step in the degradation of complex glycosphingolipids. As a result, glucosylceramide (GlcCer) accumulates intracellularly. Little is known about the mechanisms by which GlcCer accumulation leads to Gaucher disease, particularly for the types of the disease in which severe neuropathology occurs. We now summarize recent advances in this area and in particular focus in the biochemical and cellular pathways that may cause neuronal defects. Most recent work has taken advantage of newly available mouse models, which mimic to a large extent human disease progression. Finally, we discuss observations of a genetic link between Gaucher disease and Parkinson's disease and discuss how this link has stimulated research into the basic biology of the previously underappreciated glycosphingolipid, GlcCer.
UR - http://www.scopus.com/inward/record.url?scp=84880537720&partnerID=8YFLogxK
U2 - 10.1007/978-3-7091-1511-4_20
DO - 10.1007/978-3-7091-1511-4_20
M3 - فصل
C2 - 23563668
SN - 9783709115107
T3 - Handbook of Experimental Pharmacology
SP - 405
EP - 419
BT - Sphingolipids in Disease
PB - Springer Science and Business Media B.V.
ER -