Altered lysosome distribution is an early neuropathological event in neurological forms of Gaucher disease.

Abstract:

:In the lysosomal storage disorder Gaucher disease (GD), glucosylceramide (GlcCer) accumulates due to the defective activity of glucocerebrosidase. A subset of GD patients develops neuropathology. We now show mislocalization of Limp2-positive puncta and a large reduction in the number of Lamp1-positive puncta, which are associated with impaired tubulin. These changes occur at an early stage in animal models of GD, prior to development of overt symptoms and considerably earlier than neuronal loss. Altered lysosomal localization and cytoskeleton disruption precede the neuroinflammatory pathways, axonal dystrophy and neuronal loss previously characterized in neuronal forms of GD.

journal_name

FEBS Lett

journal_title

FEBS letters

authors

Zigdon H,Meshcheriakova A,Farfel-Becker T,Volpert G,Sabanay H,Futerman AH

doi

10.1002/1873-3468.12591

subject

Has Abstract

pub_date

2017-03-01 00:00:00

pages

774-783

issue

5

eissn

0014-5793

issn

1873-3468

journal_volume

591

pub_type

信件
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