Article
Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.
PloS one - 1 Jan 2020
Schiffer Victoria, Santiago-Mujika Estibaliz, Flunkert Stefanie, Schmidt Staffan, Farcher Martina, Loeffler Tina, Schilcher Irene, Posch Maria, Neddens Joerg, Sun Ying, Kehr Jan, Hutter-Paier Birgit
Abstract excerpt
Gaucher disease is caused by a deficiency in glucocerebrosidase that can result in non-neuronal as well as neuronal symptoms. Common visceral symptoms are an increased organ size, specifically of the spleen, and glucosylceramide as well as glucosylsphingosine substrate accumulations as a direct result of the glucocerebrosidase deficiency. Neuronal symptoms include motor deficits and strong alterations in the...
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