Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice

The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations of Gaucher disease including neurological involvement. Mutations in the GBA gene have recently also been identified as major genetic risk fact...

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Veröffentlicht in:	PloS one Jg. 10; H. 8; S. e0135889
Hauptverfasser:	Marques, André R. A., Aten, Jan, Ottenhoff, Roelof, van Roomen, Cindy P. A. A., Herrera Moro, Daniela, Claessen, Nike, Vinueza Veloz, María Fernanda, Zhou, Kuikui, Lin, Zhanmin, Mirzaian, Mina, Boot, Rolf G., De Zeeuw, Chris I., Overkleeft, Herman S., Yildiz, Yildiz, Aerts, Johannes M. F. G.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Public Library of Science 14.08.2015 Public Library of Science (PLoS)
Schlagworte:	Abnormalities Animals Basal ganglia beta-Glucosidase - genetics beta-Glucosidase - metabolism Biochemistry Biosynthesis Brain Brain diseases Central nervous system diseases Cholesterol Endoplasmic reticulum Enzymes Gaucher's disease Genetic disorders Glucosylceramidase Glucosylceramides - genetics Glucosylceramides - metabolism Intracellular Signaling Peptides and Proteins Life span Lysosomes Metabolic disorders Metabolism Mice Mice, Knockout Motor ability Mouse devices Movement disorders Mutation Neuropathology Neurosciences Niemann-Pick disease Niemann-Pick Disease, Type C - enzymology Niemann-Pick Disease, Type C - genetics Niemann-Pick Disease, Type C - pathology Npc1 protein Pathology Physiological aspects Proteins - genetics Proteins - metabolism Purkinje cells Purkinje Cells - enzymology Purkinje Cells - pathology Risk factors Substrates Therapeutic applications Yang, Cindy Netherlands
ISSN:	1932-6203, 1932-6203
Online-Zugang:	Volltext
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