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GBA mutation microglia

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https://www.readbyqxmd.com/read/27175482/induction-of-the-type-i-interferon-response-in-neurological-forms-of-gaucher-disease
#1
Einat B Vitner, Tamar Farfel-Becker, Natalia Santos Ferreira, Dena Leshkowitz, Piyush Sharma, Karl S Lang, Anthony H Futerman
BACKGROUND: Neuroinflammation is a key phenomenon in the pathogenesis of many neurodegenerative diseases. Understanding the mechanisms by which brain inflammation is engaged and delineating the key players in the immune response and their contribution to brain pathology is of great importance for the identification of novel therapeutic targets for these devastating diseases. Gaucher disease, the most common lysosomal storage disease, is caused by mutations in the GBA1 gene and is a significant risk factor for Parkinson's disease; in some forms of Gaucher disease, neuroinflammation is observed...
2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/17954912/murine-models-of-acute-neuronopathic-gaucher-disease
#2
Ida Berglin Enquist, Christophe Lo Bianco, Andreas Ooka, Eva Nilsson, Jan-Eric MÃ¥nsson, Mats Ehinger, Johan Richter, Roscoe O Brady, Deniz Kirik, Stefan Karlsson
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the glucosidase, beta, acid (GBA) gene that encodes the lysosomal enzyme glucosylceramidase (GCase). GCase deficiency leads to characteristic visceral pathology and, in some patients, lethal neurological manifestations. Here, we report the generation of mouse models with the severe neuronopathic form of GD. To circumvent the lethal skin phenotype observed in several of the previous GCase-deficient animals, we genetically engineered a mouse model with strong reduction in GCase activity in all tissues except the skin...
October 30, 2007: Proceedings of the National Academy of Sciences of the United States of America
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