Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose.
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Gaucher's disease
Transcription
Clinical significance
In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome.[1] Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome. [2]
See also
References
- ^ Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, de Villemeur TB, Berger MG (Feb 2017). "A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments". International Journal of Molecular Sciences. 18 (2): 441. doi:10.3390/ijms18020441. PMC 5343975. PMID 28218669.
- ^ Baris HN, Cohen IJ, Mistry PK (Sep 2014). "Gaucher Disease: The Metabolic Defect, Pathophysiology, Phenotypes And Natural History". Pediatr Endocrinol Rev. 12 (1): 72–81. PMC 4520262. PMID 25345088.
External links
Media related to Glucocerebroside at Wikimedia Commons- Glucocerebrosides at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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This page was last edited on 17 December 2023, at 14:48