Results 121 to 130 of about 14,087 (142)
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INVOLVEMEMENT OF GBA2 IN THE INFLAMMATORY RESPONSE TO PSEUDOMONAS AERUGINOSA IN CYSTIC FIBROSIS
2015Cystic fibrosis (CF) lung disease is characterized by progressive chronic infection and inflammation of the airways representing the major cause of mortality in patients. Current anti-inflammatory strategies for the treatment of pulmonary disease in CF are limited; thus, there is continued interest in identifying additional molecular targets for ...
Schiumarini, Domitilla +17 more
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New biallelic GBA2 variant in a patient with SPG46
Clinical Neurology and Neurosurgery, 2020Carlotta Spagnoli +5 more
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Impaired liver regeneration in GBA2-deficient mice
Zeitschrift für Gastroenterologie, 2010ER Almajan +7 more
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Inhibitory effect of hepatocarcinogenesis by increased glucosylceramide in Gba2 knockout mice
Zeitschrift für Gastroenterologie, 2011S Boussettaoui +5 more
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GBA2-deficiency and the effect on sphingolipid metabolism in hereditary spastic paraplegia type 46
Bi-allelic, pathogenic variants in the GBA2 gene cause hereditary spastic paraplegia subtype 46, complicated by cerebellar ataxia. The GBA2 gene encodes the non-lysosomal ß-glucosidase, also known as GBA2. This enzyme is involved in the sphingolipid metabolism and catalyzes the breakdown of glucosylceramide into glucose and ceramide.openaire +2 more sources
Faculty Opinions recommendation of New biallelic GBA2 variant in a patient with SPG46.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2021openaire +1 more source