Krabbe's Disease

D'Agostino, A; Sayre, George P.; Hayles, Alvin B.

doi:10.1001/archneur.1963.00460010098012

Cited by 48 publications

(2 citation statements)

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“…The hypothesis states that not only the primary substrate, but also the secondary cytotoxic substrate, psy, cannot be degraded and its accumulation causes loss of the myelin-forming cells (138,139). Classically, histopathologic presence of multinucleated macrophages engulfed with undegradable Gal-cer was the original means of diagnosis (140,141). Since then, enzymatic and genetic assays have been developed and are valuable for a prenatal diagnosis (128,129,142,143).…”

Section: Globoid Cell Leukodystrophy In Humansmentioning

confidence: 99%

Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases

et al. 2020

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Mouse models of human disease remain the bread and butter of modern biology and therapeutic discovery. Nonetheless, more often than not mouse models do not reproduce the pathophysiology of the human conditions they are designed to mimic. Naturally occurring large animal models have predominantly been found in companion animals or livestock because of their emotional or economic value to modern society and, unlike mice, often recapitulate the human disease state. In particular, numerous models have been discovered in dogs and have a fundamental role in bridging proof of concept studies in mice to human clinical trials. The present article is a review that highlights current canine models of human diseases, including Alzheimer's disease, degenerative myelopathy, neuronal ceroid lipofuscinosis, globoid cell leukodystrophy, Duchenne muscular dystrophy, mucopolysaccharidosis, and fucosidosis. The goal of the review is to discuss canine and human neurodegenerative pathophysiologic similarities, introduce the animal models, and shed light on the ability of canine models to facilitate current and future treatment trials.

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Section: Globoid Cell Leukodystrophy In Humansmentioning

confidence: 99%

Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases

et al. 2020

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“…Krabbe disease (also known as globoid cell leukodystrophy) is a rare, inherited autosomal recessive disorder caused by loss of GALC function, leading to devastating and ultimately fatal neurodegeneration. 1 As well as its role in Krabbe disease pathogenesis, GALC function has been linked to cell division, cancer metabolism, primary open-angle glaucoma, necrotizing enterocolitis and maintenance of a haematopoietic stem cell niche. [2][3][4][5][6] GALC folds in the endoplasmic reticulum (ER), where it is post-translationally modied by N-linked glycosylation.…”

Section: Introductionmentioning

confidence: 99%