Optimal assay conditions for enzymatic characterization of homozygous and heterozygous twitcher mouse

Raghavan, Subharekha; Krusell, Allan

doi:10.1016/0005-2760(86)90111-6

Cited by 21 publications

(17 citation statements)

References 20 publications

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“…25 In brief, the brain was homogenized in 10 volumes of distilled water with a Potter-Elvehjem homogenizer, sonicated, and centrifuged at 1120 g for 10 min. The supernatant were collected and used for the assay.…”

Section: Assessment Of Clinical Symptomsmentioning

confidence: 99%

Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements

Watabe

Ohashi

et al. 2001

Gene Ther

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Twitcher mouse is a murine model of human globoid cell leukodystrophy (Krabbe disease), which is characterized by a genetic deficiency in galactocerebrosidase (GALC) activity. The nervous system is affected early and severely by demyelination in the white matter. So far, there is no effective treatment for Krabbe disease except bone marrow transplantation (BMT). However, BMT has inherent limitations such as unavailability of donors and graft-versus-host disease. In this study, we injected recombinant adenovirus encoding GALC into the lateral ventricle of twitcher mice at postnatal day 0 (PND 0) and the therapeutic effects were evaluated. Our results showed slight, but significant

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Section: Assessment Of Clinical Symptomsmentioning

confidence: 99%

Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements

Watabe

Ohashi

et al. 2001

Gene Ther

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“…The senior author personally exam ined 9 of the patients (No. 4,[6][7][8][11][12][13][14][15]. Information on the remaining 6 cases was obtained from medical reports and interviews with family members.…”

Section: Discussionmentioning

confidence: 99%

“…91-072-1). They were labeled with tritium in the C-6 position according to the method of Radin and Evangelatos [14], The enzyme assays were performed as described by Raghavan and Krusell [15].…”

Section: Enzyme Studiesmentioning

confidence: 99%

Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases

1991

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The diagnosis of late-onset variants of Krabbe disease (globoid cell leukodystrophy) has been facilitated by the recognition of galactocerebrosidase deficiency as its biochemical hallmark. Fifteen patients, ages 4–73, are presented. Signs included pes cavus, optic disc pallor, progressive spastic tetraparesis, a sensorimotor demyelinating neuropathy and hypodense lesions in the parieto-occipital periventricular white matter. Although intellect was preserved in more than half the cases, significant intrafamilial variability in mental functioning was encountered in 3 families. Bone marrow transplantation was successful in 1 13-year-old girl, but caused the death of 2 teenage twin sisters.

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“…Currently, GALC is evaluated in conventional assays that use a radiolabeled galactocerebroside or fluorescent-tagged derivatives as substrates (15)(16)(17). Despite being specific, these methods exhibit poor limits of detection and require relatively large amounts of protein as the source of enzyme activity.…”

Section: Discussionmentioning

confidence: 99%

“…Currently, GALC activity is measured through a variety of biochemical assays based on radiolabeled galactocerebroside or fluorogenic derivatives (15)(16)(17) or histological assay (18 ). Notwithstanding their specificity, these substrates require an activator and relatively large amounts of protein as the source of enzyme activity, raising major sensitivity issues in light of limited availability of human biological material.…”

mentioning

confidence: 99%

Specific Determination of β-Galactocerebrosidase Activity via Competitive Inhibition of β-Galactosidase

et al. 2009

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BACKGROUND:The determination of cellular ␤-galactocerebrosidase activity is an established procedure to diagnose Krabbe disease and monitor the efficacy of gene/stem cell-based therapeutic approaches aimed at restoring defective enzymatic activity in patients or disease models. Current biochemical assays for ␤-galactocerebrosidase show high specificity but generally require large protein amounts from scanty sources such as hematopoietic or neural stem cells. We developed a novel assay based on the hypothesis that specific measurements of ␤-galactocerebrosidase activity can be performed following complete inhibition of ␤-galactosidase activity.

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Optimal assay conditions for enzymatic characterization of homozygous and heterozygous twitcher mouse

Cited by 21 publications

References 20 publications

Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements

Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements

Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases

Specific Determination of β-Galactocerebrosidase Activity via Competitive Inhibition of β-Galactosidase

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