Gregory Grabowski to Phenotype
This is a "connection" page, showing publications Gregory Grabowski has written about Phenotype.
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0.876
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CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings. Mol Genet Metab. 2015 Feb; 114(2):233-241.
Score: 0.092
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Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease. Mol Genet Metab. 2014 Jul; 112(3):229-41.
Score: 0.090
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Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. Hum Mol Genet. 2013 Jun 15; 22(12):2435-50.
Score: 0.083
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Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program. 2012; 2012:13-8.
Score: 0.076
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Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease. Autophagy. 2010 Jul; 6(5):648-9.
Score: 0.069
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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: 0.066
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Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. Hum Mol Genet. 2008 Aug 01; 17(15):2345-56.
Score: 0.059
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Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels. Mol Genet Metab. 2008 Jun; 94(2):190-203.
Score: 0.059
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Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking. Hum Mol Genet. 2007 Apr 15; 16(8):957-71.
Score: 0.055
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Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J Lipid Res. 2005 Oct; 46(10):2102-13.
Score: 0.049
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Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol. 2003 Nov; 163(5):2093-101.
Score: 0.043
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Combination of acid ?-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype. Sci Rep. 2019 04 03; 9(1):5571.
Score: 0.031
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Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease. EBioMedicine. 2018 Feb; 28:251-260.
Score: 0.029
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Association Between Progranulin and Gaucher Disease. EBioMedicine. 2016 Sep; 11:127-137.
Score: 0.026
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Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model. Hum Mol Genet. 2015 Dec 15; 24(24):7031-48.
Score: 0.025
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Role of saposin C and D in auditory and vestibular function. Laryngoscope. 2016 Feb; 126(2):452-9.
Score: 0.024