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W H Hannon - One of the best experts on this subject based on the ideXlab platform.
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The preparation and Storage of dried-blood spot quality control materials for Lysosomal Storage Disease screening tests
Clinical Biochemistry, 2011Co-Authors: B W Adam, J J Orsini, S D Zobel, Michele Caggana, E. M. Hall, M. Martin, W H HannonAbstract:Abstract Objective We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for Lysosomal Storage Disease (LSD) screening tests and to determine optimum blood and DBS Storage conditions. Methods We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. Results Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37 ± 1 °C were 35%–66% in low humidity and 61%–100% in high humidity. Conclusions Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is Lysosomal enzyme-deficient. Failure to control humidity during DBS Storage results in loss of Lysosomal-enzyme activities.
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The preparation and Storage of dried-blood spot quality control materials for Lysosomal Storage Disease screening tests.
Clinical biochemistry, 2011Co-Authors: B W Adam, J J Orsini, S D Zobel, Michele Caggana, E. M. Hall, M. Martin, W H HannonAbstract:We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for Lysosomal Storage Disease (LSD) screening tests and to determine optimum blood and DBS Storage conditions. We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37±1°C were 35%-66% in low humidity and 61%-100% in high humidity. Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is Lysosomal enzyme-deficient. Failure to control humidity during DBS Storage results in loss of Lysosomal-enzyme activities. Published by Elsevier Inc.
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The preparation and Storage of dried-blood spot quality control materials for Lysosomal Storage Disease screening tests.
Clinical biochemistry, 2011Co-Authors: B W Adam, J J Orsini, S D Zobel, Michele Caggana, E. M. Hall, M. Martin, W H HannonAbstract:We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for Lysosomal Storage Disease (LSD) screening tests and to determine optimum blood and DBS Storage conditions. We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37±1°C were 35%-66% in low humidity and 61%-100% in high humidity. Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is Lysosomal enzyme-deficient. Failure to control humidity during DBS Storage results in loss of Lysosomal-enzyme activities. Published by Elsevier Inc.
B W Adam - One of the best experts on this subject based on the ideXlab platform.
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The preparation and Storage of dried-blood spot quality control materials for Lysosomal Storage Disease screening tests
Clinical Biochemistry, 2011Co-Authors: B W Adam, J J Orsini, S D Zobel, Michele Caggana, E. M. Hall, M. Martin, W H HannonAbstract:Abstract Objective We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for Lysosomal Storage Disease (LSD) screening tests and to determine optimum blood and DBS Storage conditions. Methods We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. Results Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37 ± 1 °C were 35%–66% in low humidity and 61%–100% in high humidity. Conclusions Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is Lysosomal enzyme-deficient. Failure to control humidity during DBS Storage results in loss of Lysosomal-enzyme activities.
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The preparation and Storage of dried-blood spot quality control materials for Lysosomal Storage Disease screening tests.
Clinical biochemistry, 2011Co-Authors: B W Adam, J J Orsini, S D Zobel, Michele Caggana, E. M. Hall, M. Martin, W H HannonAbstract:We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for Lysosomal Storage Disease (LSD) screening tests and to determine optimum blood and DBS Storage conditions. We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37±1°C were 35%-66% in low humidity and 61%-100% in high humidity. Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is Lysosomal enzyme-deficient. Failure to control humidity during DBS Storage results in loss of Lysosomal-enzyme activities. Published by Elsevier Inc.
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The preparation and Storage of dried-blood spot quality control materials for Lysosomal Storage Disease screening tests.
Clinical biochemistry, 2011Co-Authors: B W Adam, J J Orsini, S D Zobel, Michele Caggana, E. M. Hall, M. Martin, W H HannonAbstract:We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for Lysosomal Storage Disease (LSD) screening tests and to determine optimum blood and DBS Storage conditions. We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37±1°C were 35%-66% in low humidity and 61%-100% in high humidity. Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is Lysosomal enzyme-deficient. Failure to control humidity during DBS Storage results in loss of Lysosomal-enzyme activities. Published by Elsevier Inc.
Beverly L Davidson - One of the best experts on this subject based on the ideXlab platform.
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Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of Lysosomal Storage Disease
Molecular Therapy, 2012Co-Authors: Yong Hong Chen, Kristin Claflin, James C. Geoghegan, Beverly L DavidsonAbstract:Recombinant vector systems have been recently identified that when delivered systemically can transduce neurons, glia, and endothelia in the central nervous system (CNS), providing an opportunity to develop therapies for Diseases affecting the brain without performing direct intracranial injections. Vector systems based on adeno-associated virus (AAV) include AAV serotype 9 (AAV9) and AAVs that have been re-engineered at the capsid level for CNS tropism. Here, we performed a head-to-head comparison of AAV9 and a capsid modified AAV for their abilities to rescue CNS and peripheral Disease in an animal model of Lysosomal Storage Disease (LSD), the mucopolysacharidoses (MPS) VII mouse. While the peptide-modified AAV reversed cognitive deficits, improved Storage burden in the brain, and substantially prolonged survival, we were surprised to find that AAV9 provided no CNS benefit. Additional experiments demonstrated that sialic acid, a known inhibitor of AAV9, is elevated in the CNS of MPS VII mice. These studies highlight how Disease manifestations can dramatically impact the known tropism of recombinant vectors, and raise awareness to assuming similar transduction profiles between normal and Disease models.
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functional correction of established central nervous system deficits in an animal model of Lysosomal Storage Disease with feline immunodeficiency virus based vectors
Proceedings of the National Academy of Sciences of the United States of America, 2002Co-Authors: Andrew I Brooks, Colleen S Stein, Stephanie M Hughes, Jason A Heth, Paul M Mccray, Sybille L Sauter, Julie C Johnston, Deborah A Coryslechta, Howard J Federoff, Beverly L DavidsonAbstract:Gene transfer vectors based on lentiviruses can transduce terminally differentiated cells in the brain; however, their ability to reverse established behavioral deficits in animal models of neurodegeneration has not previously been tested. When recombinant feline immunodeficiency virus (FIV)-based vectors expressing β-glucuronidase were unilaterally injected into the striatum of adult β-glucuronidase deficient [mucopolysaccharidosis type VII (MPS VII)] mice, an animal model of Lysosomal Storage Disease, there was bihemispheric correction of the characteristic cellular pathology. Moreover, after the injection of FIV-based vectors expressing β-glucuronidase into brains of β-glucuronidase-deficient mice with established impairments in spatial learning and memory, there was dramatic recovery of behavioral function. Cognitive improvement resulting from expression of β-glucuronidase was associated with alteration in expression of genes associated with neuronal plasticity. These data suggest that enzyme replacement to the MPS VII central nervous system goes beyond restoration of β-glucuronidase activity in the lysosome, and imparts improvements in plasticity and spatial learning.
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extensive beta glucuronidase activity in murine central nervous system after adenovirus mediated gene transfer to brain
Human Gene Therapy, 1998Co-Authors: Abdi Ghodsi, Todd A Derksen, Gongyu Yang, Colleen S Stein, Richard D Anderson, Beverly L DavidsonAbstract:ABSTRACT Mucopolysaccharidosis type VII (MPS VII), caused by β-glucuronidase deficiency, is a classic Lysosomal Storage Disease. In the central nervous system (CNS), there is widespread pathology w...
Rachel Saunders-pullman - One of the best experts on this subject based on the ideXlab platform.
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Atypical presentation of late-onset Tay-sachs Disease
Muscle & nerve, 2014Co-Authors: Andres Deik, Rachel Saunders-pullmanAbstract:Introduction Late-onset Tay-Sachs Disease (LOTS) is a Lysosomal Storage Disease caused by deficient Beta-hexosaminidase A activity.
M. Martin - One of the best experts on this subject based on the ideXlab platform.
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The preparation and Storage of dried-blood spot quality control materials for Lysosomal Storage Disease screening tests
Clinical Biochemistry, 2011Co-Authors: B W Adam, J J Orsini, S D Zobel, Michele Caggana, E. M. Hall, M. Martin, W H HannonAbstract:Abstract Objective We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for Lysosomal Storage Disease (LSD) screening tests and to determine optimum blood and DBS Storage conditions. Methods We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. Results Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37 ± 1 °C were 35%–66% in low humidity and 61%–100% in high humidity. Conclusions Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is Lysosomal enzyme-deficient. Failure to control humidity during DBS Storage results in loss of Lysosomal-enzyme activities.
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The preparation and Storage of dried-blood spot quality control materials for Lysosomal Storage Disease screening tests.
Clinical biochemistry, 2011Co-Authors: B W Adam, J J Orsini, S D Zobel, Michele Caggana, E. M. Hall, M. Martin, W H HannonAbstract:We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for Lysosomal Storage Disease (LSD) screening tests and to determine optimum blood and DBS Storage conditions. We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37±1°C were 35%-66% in low humidity and 61%-100% in high humidity. Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is Lysosomal enzyme-deficient. Failure to control humidity during DBS Storage results in loss of Lysosomal-enzyme activities. Published by Elsevier Inc.
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The preparation and Storage of dried-blood spot quality control materials for Lysosomal Storage Disease screening tests.
Clinical biochemistry, 2011Co-Authors: B W Adam, J J Orsini, S D Zobel, Michele Caggana, E. M. Hall, M. Martin, W H HannonAbstract:We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for Lysosomal Storage Disease (LSD) screening tests and to determine optimum blood and DBS Storage conditions. We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37±1°C were 35%-66% in low humidity and 61%-100% in high humidity. Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is Lysosomal enzyme-deficient. Failure to control humidity during DBS Storage results in loss of Lysosomal-enzyme activities. Published by Elsevier Inc.
