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2002, Molecular biology intelligence unit (Unnumbered), ISBN 0306474425, Volume 21, 162
Book
2007, ISBN 9780849338168, 528 p., [8] p. of plates
Book
Nature, ISSN 0028-0836, 09/2016, Volume 537, Issue 7621, p. S160
  Not only do they require large numbers of patients' DNA samples - which are very difficult to acquire for rare diseases such as LSDs - but researchers also... 
Studies | Enzymes | Genes | Parkinsons disease | Mutation | Metabolic disorders
Journal Article
Journal Article
Biochimica et biophysica acta. Molecular and cell biology of lipids, ISSN 1388-1981, 06/2019
Sphingolipids (SLs) are an important class of membrane lipids containing a long chain sphingoid base backbone. SL synthesis is compartmentalized between two... 
Journal Article
Advances in experimental medicine and biology, ISSN 0065-2598, 2019, Volume 1159, p. 49
The majority of enzymes in the sphingolipid (SL) biosynthetic pathway have been identified over the past couple of decades. Despite significant work, and... 
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2005, Volume 280, Issue 40, pp. 33735 - 33738
Journal Article
Physical Chemistry Chemical Physics, ISSN 1463-9076, 12/2016, Volume 19, Issue 1, pp. 340 - 346
Glucosylceramide (GlcCer) plays an active role in the regulation of various cellular events. Moreover, GlcCer is also a key modulator of membrane biophysical... 
Viscosity | Pathology | Membranes | Control | Cells (biology) | Fibroblasts | Arrays | Modulators
Journal Article
FEBS Letters, ISSN 0014-5793, 08/2015, Volume 589, Issue 17, p. 2213
* Ceramide synthase 2 (CerS2) null mice are unable to synthesize very-long acyl chain ceramides. * CerS2 null mice show a number of pathologies in the liver... 
Ceramides | Enzymes | Septic shock | Plant lipids | Tumor necrosis factor | Mitogens | Liver
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 01/2018, Volume 217, Issue 1, p. 269
Functional heterogeneity within the lipid droplet (LD) pool of a single cell has been observed, yet the underlying mechanisms remain enigmatic. Here, we report... 
Geographical distribution | Yeast | Splicing | Genes | Lipids | Nuclei | Organelles | Cells | Mutants | Proteins | Positioning devices (machinery) | Protein composition | Mutation
Journal Article
Biophysical Journal, ISSN 0006-3495, 02/2016, Volume 110, Issue 3, p. 612
  Glucosylceramide (GlcCer), one of the simplest glycosphingolipids, plays key roles in physiology and pathophysiology. It has been suggested that GlcCer... 
Membranes | Spectrum analysis | Fluorescence | Biophysics | Cholesterol
Journal Article
Pediatric endocrinology reviews : PER, ISSN 1565-4753, 2013, Volume 11, pp. 59 - 63
Lysosomal storage diseases (LSDs), which are inborn errors of metabolism, encompass around 50 different inherited syndromes. Together, they have an incidence... 
Genetic Predisposition to Disease | Phenotype | Animals | Lysosomal Storage Diseases - therapy | Global Health | Humans | Lysosomal Storage Diseases - epidemiology | Lysosomal Storage Diseases - genetics | Leukocyte Elastase - deficiency | Genetic Therapy - methods | Incidence
Journal Article
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