Gregory Grabowski to Amino Acid Substitution
This is a "connection" page, showing publications Gregory Grabowski has written about Amino Acid Substitution.
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The LIMP-2/SCARB2 binding motif on acid ?-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases. J Biol Chem. 2014 Oct 24; 289(43):30063-74.
Score: 0.112
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Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PLoS One. 2013; 8(3):e57560.
Score: 0.101
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Ex vivo and in vivo effects of isofagomine on acid ?-glucosidase variants and substrate levels in Gaucher disease. J Biol Chem. 2012 Feb 03; 287(6):4275-87.
Score: 0.093
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Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet. 2010 Mar 15; 19(6):1088-97.
Score: 0.081
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Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease. Mol Genet Metab. 2009 May; 97(1):65-74.
Score: 0.076
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Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood. 2009 Oct 08; 114(15):3181-90.
Score: 0.020