Globoid cell leukodystrophy (GLD) is a lysosomal storage disease caused by deficient activity of β-galactocerebrosidase (GALC). The infantile forms manifest with rapid and progressive central and peripheral demyelination, which represent a major hurdle for any treatment approach. We demonstrate here that neonatal lentiviral vector-mediated intracerebral gene therapy (IC GT) or transplantation o...

Four cases of late-onset Krabbe's leukodystrophy had varying clinical features. One sibling became wheelchair-bound while another leads an active working life. The computed tomography (CT) scan of a third patient showed occipital demyelination with contrast enhancement identical to that seen in an adrenoleucodystrophy. The fourth was the only patient with peripheral neuropathy. All patients had...

Galactosylceramide beta-galactosidase (cerebrosidase) and nonspecific beta-galactosidase activities were measured in both cultured skin fibroblasts and leucocytes from a family with Krabbe's globoid cell leucodystrophy (GLD). The activities of these enzymes were also determined in cultured skin fibroblasts of a patient with GM1 gangliosidosis and in cultured amniotic fluid cells. While cerebros...

The distribution of waiting times, f(t), between successive turnovers in the catalytic action of single molecules of the enzyme beta-galactosidase has recently been determined in closed form by Chaudhury and Cherayil [J. Chem. Phys. 125, 024904 (2006)] using a one-dimensional generalized Langevin equation (GLE) formalism in combination with Kramers' flux-over-population approach to barrier cros...

We report a novel role for the lysosomal galactosylceramidase (GALC), which is defective in globoid cell leukodystrophy (GLD), in maintaining a functional post-natal subventricular zone (SVZ) neurogenic niche. We show that proliferation/self-renewal of neural stem cells (NSCs) and survival of their neuronal and oligodendroglial progeny are impaired in GALC-deficient mice. Using drugs to modulat...

Despite the rapidly expanding clinical use of leukocyte biochemistry, there is a limited amount of data available on normal human leukocytes. Some of the problems associated with the clinical use of leukocytes are discussed briefly. Enzyme activities of alkaline and acid phosphatase, lysozyme, and beta-galactosidase are presented. Results are reproducible between normals when expressed per mg o...

One hundred and twenty-two clinical isolates of Acinetobacter were studied for the presence of beta-galactosidase and of beta-xylosidase, for biochemical characteristics, and for genetic interspecies transformation tests. All strains lacked beta-galactosidase; in contrast, beta-xylosidase was always present in the oxidative strains. This test proved to be of value for separating strains able to...

Lipid rafts (LRs) are membrane realms characterized by high concentrations of cholesterol and sphingolipids. Often, they are portrayed as scaffolds on which many different signaling molecules can assemble their cascades. The idea of rafts as scaffolds is garnering significant attention as the consequences of LR disruption have been shown to be manifest in multiple signaling pathways. In this st...

Magnetic resonance imaging (MRI) is very sensitive for the detection of white matter lesions (WML), which occur even in normal ageing. Intrinsic WML should be separated from physiological changes in the ageing brain, such as periventricular caps and bands, and from dilated Virchow-Robin spaces. Genuine WML are best seen with T2-weighted sequences such as long TR dual-echo spin-echo or FLAIR (fl...