Leukodystrophies are rare diseases caused by defects in the genes coding for lysosomal enzymes that degrade several glycosphingolipids. Gene therapy for leukodystrophies requires efficient distribution of the missing enzymes in CNS tissues to prevent demyelination and neurodegeneration. In this work, we targeted the external capsule (EC), a white matter region enriched in neuronal projections, ...

In transgenic strains of Dictyostelium discoideum that express beta-galactosidase under the control of a prespore-specific promoter, only early slugs show reporter confined to the prespore zone. As slugs migrate beta-galactosidase-positive cells accumulate in the prestalk zone; ultimately, there may be so many that the prestalk-prespore boundary is no longer distinguishable (Harwood, A., Early,...

Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the deficiency of β-galactocerebrosidase (GALC) or in very rare cases by lack of active saposin A. We describe two patients, in whom first MRI changes were not suggestive of GLD. Additionally, in Patient ...

UNLABELLED Globoid cell leukodystrophy (GLD, Krabbe disease) is due to autosomal recessive mutations in the lysosomal enzyme galactosylceramidase (GALC). Many GLD patients develop infantile-onset of progressive neurologic deterioration and death by 2 years of age, whereas others have a later-onset, milder disease. Cord blood transplant slows disease progression much more effectively when perfor...

Grapevine leafroll disease (GLD) is caused by a complex of several virus species (grapevine leafroll-associated viruses, GLRaV) in the family Closteroviridae. Because of its increasing importance, it is critical to determine which species of GLRaV is predominant in each region where this disease is occurring. A structured sampling design, utilizing a combination of RT-PCR based testing and sequ...

Knowing expression patterns of given proteins is very important to understand their functions. Immunostaining analysis with specific antibodies is commonly used to identify cells or tissues expressing proteins of interest. Although this technique is regularly used, it requires high quality of specific antibodies and there is no good quality of antibody available for certain proteins. Alternativ...

Three tinctures samples from extracts of the popular medicinal plant Thuya occidentalis were tested in vitro through two short term tests for measuring the activity of genotoxic chemicals. Using the Salmonella/mammalian-microsome (Mutatest) assay and the SOS-chromotest (induction of beta-galactosidase in Escherichia coli), none of the extract was effective in inducing mutagenesis or beta-galact...

Strains of Escherichia coli that possess ribonucleic acid accumulated under relaxed growth conditions show a considerable increase in time before the onset of beta-galactosidase inducibility. This time dependency can be related to the presence or absence of ribonuclease I.

Pediatric Neurology Unit, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre RS, Brazil; Genetic Department, HCPA; Medical Genetic Service, HCPA; Professor of the Genetic Department, HCPA; Neuroradiology Department of Hospital Moinhos de Vento, Porto Alegre RS, Brazil; Pediatric Neurologist, Head of the Pediatric Neurology Unit, HCPA. Adjunct Professor, Universidade Federal do Rio Grande...

Globoid cell leukodystrophy (GLD) is a demyelinating lysosomal storage disease due to the deficiency of the galactocerebrosidase (GALC) enzyme. The favorable outcome of hematopoietic stem and progenitor cell (HSPC)-based approaches in GLD and other similar diseases suggests HSPC gene therapy as a promising therapeutic option for patients. The path to clinical development of this strategy was ha...