Publication: Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control
Date
Date
Date
Citations
Hornemann, T., Alecu, I., Hagenbuch, N., Zhakupova, A., Cremonesi, A., Gautschi, M., Jung, H. H., Meienberg, F., Bilz, S., Christ, E., Baumgartner, M. R., & Hochuli, M. (2018). Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control. Molecular Genetics and Metabolism, 125(1/2), 73–78. https://doi.org/10.1016/j.ymgme.2018.07.003
Abstract
Abstract
Abstract
Background 1-Deoxysphingolipids (1-deoxySLs) are atypical sphingolipids. They are formed during sphingolipid de novo synthesis by the enzyme serine palmitoyltransferase, due to the alternate use of alanine over its canonical substrate serine. Pathologically elevated 1-deoxySL are involved in several neurological and metabolic disorders. The objective of this study was to investigate the role of 1-deoxySL in glycogen storage disease type I (GSDI). Methods In this prospective, longitudinal observational study (median follow-up 1.8y), th
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
- Alecu, Irina
- Hagenbuch, Niels
- Zhakupova, Assem
- Gautschi, Matthias
- Jung, Hans H
- Meienberg, Fabian
- Bilz, Stefan
- Christ, Emanuel
- Hochuli, Michel
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Metrics
Downloads
Views
Citations
Hornemann, T., Alecu, I., Hagenbuch, N., Zhakupova, A., Cremonesi, A., Gautschi, M., Jung, H. H., Meienberg, F., Bilz, S., Christ, E., Baumgartner, M. R., & Hochuli, M. (2018). Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control. Molecular Genetics and Metabolism, 125(1/2), 73–78. https://doi.org/10.1016/j.ymgme.2018.07.003