Gregory Grabowski to Mutation
This is a "connection" page, showing publications Gregory Grabowski has written about Mutation.
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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: 0.110
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Role of saposin C and D in auditory and vestibular function. Laryngoscope. 2016 Feb; 126(2):452-9.
Score: 0.085
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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: 0.080
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Acid ?-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter a-synuclein processing. Ann Neurol. 2011 Jun; 69(6):940-53.
Score: 0.063
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In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models. PLoS One. 2009 Oct 07; 4(10):e7320.
Score: 0.057
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Gaucher disease: resetting the clinical and scientific agenda. Am J Hematol. 2009 Apr; 84(4):205-7.
Score: 0.055
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Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies. Blood Cells Mol Dis. 2003 Jan-Feb; 30(1):90-6.
Score: 0.036
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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: 0.035
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Association Between Progranulin and Gaucher Disease. EBioMedicine. 2016 Sep; 11:127-137.
Score: 0.023
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The role of UDP-Glc:glycoprotein glucosyltransferase 1 in the maturation of an obligate substrate prosaposin. J Cell Biol. 2010 May 31; 189(5):829-41.
Score: 0.015