General Neurology
Cough syncope
Apr. 29, 2024
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US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Glucosylceramides and galactosylceramides are hydrolyzed respectively by glucocerebrosidase (also named glucosylceramidase; the GBA gene encoding lysosomal glucocerebrosidase is associated with Gaucher disease) and galactosylceramidase (encoded by the GALC gene; that deficiency causes Krabbe disease) to regenerate ceramides. Ceramides are further deacetylated to sphingosines that can be broken down or recycled for sphingolipid synthesis by the salvage pathway.
Abbreviations and chromosomal locations of the responsible genes: ARSA arylsulfatase A (22q13.33); B4GALNT1 beta-1,4-N-acetyl- galactosaminyltransferase 1 (12q13.3); GAL3ST1 galactose-3-O-sulfotransferase 1 (22q12.2); GALC galactosylceramidase (14q31.3); GBA glucosylceramidase beta also named GBA1 (1q22); GBA2 glucosylceramidase beta 2 (9p13.3); GBA3 glucosylceramidase beta 3 (4p15.2); GLA galactosidase alpha (Xq22.1); GLB1 galactosidase beta 1 (3p22.3); SM4s 3-sulfo-GalCer (also known as sulfatide, galactocerebroside, 3-O-sulfogalactosylceramide, SGalCer, and SGC); ST3GAL6 ST3 beta-galactoside alpha-2,3- sialyltransferase 6 (3q12.1); UGT8 UDP glycosyltransferase 8 (4q26).
(Source: Belarbi K, Cuvelier E, Bonte MA, et al. Glycosphingolipids and neuroinflammation in Parkinson's disease. Mol Neurodegener 2020;15[1]:59. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)