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Grabowski, Gregory
One or more keywords matched the following items that are connected to Grabowski, Gregory
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Concept Phenotype
Academic Article Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
Academic Article Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
Academic Article Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model.
Academic Article Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking.
Academic Article Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.
Academic Article Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.
Academic Article 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.
Academic Article Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease.
Academic Article Gaucher disease and other storage disorders.
Academic Article Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.
Academic Article Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease.
Academic Article CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.
Academic Article Role of saposin C and D in auditory and vestibular function.
Academic Article Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
Academic Article Association Between Progranulin and Gaucher Disease.
Academic Article Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.
Academic Article Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease.
Academic Article Combination of acid ?-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype.
Academic Article Intravenous infusion of iPSC-derived neural precursor cells increases acid ?-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.
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