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Galactosylceramidase

About: Galactosylceramidase is a research topic. Over the lifetime, 203 publications have been published within this topic receiving 13877 citations. The topic is also known as: galactosylceraminidase & testis tissue sperm-binding protein Li 88E.


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Journal ArticleDOI
TL;DR: The data further characterize the ultrastructural analysis of the KD mouse model, and support recent theories of a dying-back mechanism for neuronal degeneration, which is independent of demyelination.
Abstract: Krabbe disease (KD) is a neurodegenerative disorder caused by the lack of β- galactosylceramidase enzymatic activity and by widespread accumulation of the cytotoxic galactosyl-sphingosine in neuronal, myelinating and endothelial cells. Despite the wide use of Twitcher mice as experimental model for KD, the ultrastructure of this model is partial and mainly addressing peripheral nerves. More details are requested to elucidate the basis of the motor defects, which are the first to appear during KD onset. Here we use transmission electron microscopy (TEM) to focus on the alterations produced by KD in the lower motor system at postnatal day 15 (P15), a nearly asymptomatic stage, and in the juvenile P30 mouse. We find mild effects on motorneuron soma, severe ones on sciatic nerves and very severe effects on nerve terminals and neuromuscular junctions at P30, with peripheral damage being already detectable at P15. Finally, we find that the gastrocnemius muscle undergoes atrophy and structural changes that are independent of denervation at P15. Our data further characterize the ultrastructural analysis of the KD mouse model, and support recent theories of a dying-back mechanism for neuronal degeneration, which is independent of demyelination.

10,233 citations

Journal ArticleDOI
TL;DR: The deficiency of galactocerebroside beta-galactosidase as the primary enzymatic defect can account for the morphological and biochemical characteristics of this disease better than the previously reported deficiency of cerebroside-sulfatide sulfotransferase.
Abstract: Profound deficiency of a specific enzyme, galactocerebroside β-galactosidase, has been demonstrated in the brains, liver, and spleen of three patients with Krabbe's globoid cell leucodystrophy. The activity of this enzyme was normal in a variety of other cerebral diseases, including those with similarly devasted white matter. The lack of enzyme activity was not due to an inhibitor in the tissue, nor is it due to a shift in the pH optimum. The deficiency of galactocerebroside β-galactosidase as the primary enzymatic defect can account for the morphological and biochemical characteristics of this disease better than the previously reported deficiency of cerebroside-sulfatide sulfotransferase.

397 citations

Journal ArticleDOI
TL;DR: It is felt that galactosylsphingosine and not galactOSylceramide is the primary storage substance in the brain in Krabbe disease that the disease is a psychosine lipidosis.

289 citations

Journal ArticleDOI
TL;DR: Activities of psychosine galactosidase (galactosylsphingosine gaelic hydrolase) were extremely deficient in the brain, liver and kidney of patients with globoid cell leukodystrophy, and the enzyme was similarly deficient in tissues of a fetus affected with this disease.

264 citations

Journal ArticleDOI
TL;DR: The Twitcher mouse is a new neurological mutant of mouse which shows clinical and histopathological features similar to those of human and canine globoid cell leukodystrophy (Krabbe disease), and is the first enzymatically authentic murine model of human sphingolipidosis.

246 citations


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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
20219
202013
20196
20186
20175
201618