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

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.

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

GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice.

van der Lienden MJC ，Aten J ，Marques ARA ，Waas ISE ，Larsen PWB ，Claessen N ，van der Wel NN ，Ottenhoff R ，van Eijk M ，Aerts JMFG ... -  《INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES》

Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide.

Bodennec J ，Pelled D ，Riebeling C ，Trajkovic S ，Futerman AH ... -  《-》

Neuronal forms of Gaucher disease.

Vitner EB ，Futerman AH 《-》

Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.

Farfel-Becker T ，Vitner EB ，Kelly SL ，Bame JR ，Duan J ，Shinder V ，Merrill AH Jr ，Dobrenis K ，Futerman AH ... -  《-》