Gregory Grabowski to Brain
This is a "connection" page, showing publications Gregory Grabowski has written about Brain.
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0.942
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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: 0.221
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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: 0.199
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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: 0.142
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Tissue Localization of Glycosphingolipid Accumulation in a Gaucher Disease Mouse Brain by LC-ESI-MS/MS and High-Resolution MALDI Imaging Mass Spectrometry. SLAS Discov. 2017 12; 22(10):1218-1228.
Score: 0.067
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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: 0.059
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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: 0.050
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Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease. Autophagy. 2010 Jul; 6(5):648-9.
Score: 0.041
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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: 0.040
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Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model. J Lipid Res. 2006 Oct; 47(10):2161-70.
Score: 0.031
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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: 0.029
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PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases. Proc Natl Acad Sci U S A. 2023 01 03; 120(1):e2210442120.
Score: 0.025
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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: 0.019
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Gaucher disease glucocerebrosidase and a-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell. 2011 Jul 08; 146(1):37-52.
Score: 0.011
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Saposin C: neuronal effect and CNS delivery by liposomes. Ann N Y Acad Sci. 2005 Aug; 1053:237-46.
Score: 0.007