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Journal of Clinical Investigation, ISSN 0021-9738, 12/2011, Volume 121, Issue 12, pp. 4735 - 4745
Hereditary sensory and autonomic neuropathy type 1 (HSAN1) causes sensory loss that predominantly affects the lower limbs, often preceded by hyperpathia and... 
SPHINGOLIPID METABOLISM | MEDICINE, RESEARCH & EXPERIMENTAL | SPTLC1 | PALMITOYLTRANSFERASE | CERAMIDE SYNTHASE | DISEASE | HSAN-I | MUTATIONS | ACCUMULATION | INHIBITOR | DEFICIENCY
Journal Article
BBA - Molecular and Cell Biology of Lipids, ISSN 1388-1981, 06/2012, Volume 1821, Issue 6, pp. 908 - 913
Although sphingomyelin (SM) is the most abundant phospholipid in the plasma, next to phosphatidylcholine (PC), its physiological function in plasma is unclear.... 
LDL receptor deficient mouse | Apo E deficient mouse | Sphingomyelin synthase 2 deficiency | Serine palmitoyl transferase deficiency | Cholesteryl ester composition | LCAT activity | ACTIVATION | FATTY-ACID SPECIFICITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | ARACHIDONIC-ACID | DEFICIENCY | CELL BIOLOGY | BIOPHYSICS | RISK-FACTOR | METABOLISM | SUBSTRATE | ESTERS | MODULATION | HIGH-DENSITY-LIPOPROTEINS | Cholesterol Esters - metabolism | Apolipoproteins E - deficiency | Transferases (Other Substituted Phosphate Groups) - genetics | Cholesterol - blood | Substrate Specificity | Serine C-Palmitoyltransferase - genetics | Phosphatidylcholines - metabolism | Apolipoproteins E - metabolism | Cholesterol Esters - blood | Transferases (Other Substituted Phosphate Groups) - metabolism | Lipids - blood | Mass Spectrometry | Receptors, LDL - deficiency | Transferases (Other Substituted Phosphate Groups) - deficiency | Receptors, LDL - genetics | Serine C-Palmitoyltransferase - deficiency | Phosphatidylcholines - blood | Sphingomyelins - metabolism | Mice, Inbred C57BL | Receptors, LDL - metabolism | Serine C-Palmitoyltransferase - metabolism | Cholesterol - metabolism | Esterification | Mice, Knockout | Animals | Apolipoproteins E - genetics | Sphingomyelins - blood | Mice | Phosphatidylcholine-Sterol O-Acyltransferase - metabolism | Phosphatidylcholine-Sterol O-Acyltransferase - blood | Lecithin | Laws, regulations and rules | Analysis | Low density lipoproteins | Physiological aspects | Genetic research | Esters | Phospholipids | Plant lipids | Cholesterol
Journal Article
The EMBO Journal, ISSN 0261-4189, 02/2007, Volume 26, Issue 4, pp. 1094 - 1104
Journal Article
Journal Article
Journal Article
NeuroMolecular Medicine, ISSN 1535-1084, 3/2016, Volume 18, Issue 1, pp. 81 - 90
Journal Article
Journal Article
Biochimica et biophysica acta, ISSN 0006-3002, 10/2005, Volume 1737, Issue 1, p. 44
Sphingolipids play a very important role in cell membrane formation, signal transduction, and plasma lipoprotein metabolism, and all these functions may have... 
Serine C-Palmitoyltransferase - deficiency | Liver - enzymology | Sphingomyelins - metabolism | Liver - metabolism | Mice, Inbred C57BL | Ceramides - blood | Male | Sphingolipids - metabolism | Sphingolipids - blood | Animals | Female | Heterozygote | Mice | Genetic Vectors | Serine C-Palmitoyltransferase - biosynthesis | Chimera
Journal Article
Diabetes, ISSN 0012-1797, 10/2017, Volume 66, Issue 10, pp. 2596 - 2609
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 11/2013, Volume 133, Issue 11, pp. 2555 - 2565
Journal Article