Record Information |
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Version | 5.0 |
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Status | Detected but not Quantified |
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Creation Date | 2005-11-16 15:48:42 UTC |
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Update Date | 2022-03-07 02:49:24 UTC |
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HMDB ID | HMDB0004974 |
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Secondary Accession Numbers | |
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Metabolite Identification |
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Common Name | GlcCer(d18:1/22:0) |
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Description | GlcCer(d18:1/22:0) is a glycosphingolipid (ceramide and oligosaccharide)or oligoglycosylceramide with one or more sialic acids (i.e. n-acetylneuraminic acid) linked on the sugar chain. It is a component the cell plasma membrane which modulates cell signal transduction events. Gangliosides have been found to be highly important in immunology. Ganglioside GL1a carries a net-negative charge at pH 7.0 and is acidic. Gangliosides can amount to 6% of the weight of lipids from brain, but they are found at low levels in all animal tissues.Cerebrosides are glycosphingolipids. There are four types of glycosphingolipids, the cerebrosides, sulfatides, globosides and gangliosides. Cerebrosides have a single sugar group linked to ceramide. The most common are galactocerebrosides (containing galactose), the least common are glucocerebrosides (containing glucose). Galactocerebrosides are found predominantly in neuronal cell membranes. In contrast glucocerebrosides are not normally found in membranes. Instead, they are typically intermediates in the synthesis or degradation of more complex glycosphingolipids. Galactocerebrosides are synthesized from ceramide and UDP-galactose. Excess lysosomal accumulation of glucocerebrosides is found in Gaucher disease. |
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Structure | CCCCCCCCCCCCCCCCCCCCCC(=O)N[C@@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)[C@H](O)\C=C\CCCCCCCCCCCCC InChI=1S/C46H89NO8/c1-3-5-7-9-11-13-15-17-18-19-20-21-22-24-26-28-30-32-34-36-42(50)47-39(38-54-46-45(53)44(52)43(51)41(37-48)55-46)40(49)35-33-31-29-27-25-23-16-14-12-10-8-6-4-2/h33,35,39-41,43-46,48-49,51-53H,3-32,34,36-38H2,1-2H3,(H,47,50)/b35-33+/t39-,40+,41+,43+,44-,45+,46+/m0/s1 |
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Synonyms | Value | Source |
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beta-D-Glucopyranosyl-N-(docosanoyl)sphingosine | ChEBI | beta-D-Glucosyl-N-(behenoyl)sphingosine | ChEBI | beta-D-Glucosyl-N-docosanoylsphingosine | ChEBI | beta-GlcCer | ChEBI | beta-Glucosylceramide | ChEBI | C22 GlcCer | ChEBI | CMH | ChEBI | GlcCer(D18:1/22:0) | ChEBI | N-(Docosanoyl)-1-beta-glucosyl-sphing-4-enine | ChEBI | b-D-Glucopyranosyl-N-(docosanoyl)sphingosine | Generator | Β-D-glucopyranosyl-N-(docosanoyl)sphingosine | Generator | b-D-Glucosyl-N-(behenoyl)sphingosine | Generator | Β-D-glucosyl-N-(behenoyl)sphingosine | Generator | b-D-Glucosyl-N-docosanoylsphingosine | Generator | Β-D-glucosyl-N-docosanoylsphingosine | Generator | b-GlcCer | Generator | Β-glccer | Generator | b-Glucosylceramide | Generator | Β-glucosylceramide | Generator | N-(Docosanoyl)-1-b-glucosyl-sphing-4-enine | Generator | N-(Docosanoyl)-1-β-glucosyl-sphing-4-enine | Generator | b-D-Glucosyl-N-(docosanoyl)sphingosine | HMDB | Β-D-glucosyl-N-(docosanoyl)sphingosine | HMDB | 1-O-b-D-Glucopyranosyl-ceramide | HMDB | 1-O-beta-delta-Glucopyranosyl-ceramide | HMDB | Ganglioside GL1a | HMDB | Gaucher cerebroside | HMDB | GLC-beta1->1'cer | HMDB | GlcCeramide | HMDB | Glucocerebroside | HMDB | Glucosylceramide | HMDB | Glucosylceramide (D18:1/22:0) | ChEBI |
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Chemical Formula | C46H89NO8 |
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Average Molecular Weight | 784.2008 |
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Monoisotopic Molecular Weight | 783.658818829 |
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IUPAC Name | N-[(2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5S,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-yl]docosanamide |
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Traditional Name | CMH |
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CAS Registry Number | Not Available |
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SMILES | CCCCCCCCCCCCCCCCCCCCCC(=O)N[C@@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)[C@H](O)\C=C\CCCCCCCCCCCCC |
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InChI Identifier | InChI=1S/C46H89NO8/c1-3-5-7-9-11-13-15-17-18-19-20-21-22-24-26-28-30-32-34-36-42(50)47-39(38-54-46-45(53)44(52)43(51)41(37-48)55-46)40(49)35-33-31-29-27-25-23-16-14-12-10-8-6-4-2/h33,35,39-41,43-46,48-49,51-53H,3-32,34,36-38H2,1-2H3,(H,47,50)/b35-33+/t39-,40+,41+,43+,44-,45+,46+/m0/s1 |
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InChI Key | YIGARKIIFOHVPF-CNUVFPMCSA-N |
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Chemical Taxonomy |
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Description | Belongs to the class of organic compounds known as glycosyl-n-acylsphingosines. Glycosyl-N-acylsphingosines are compounds containing a sphingosine linked to a simple glucosyl moiety. |
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Kingdom | Organic compounds |
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Super Class | Lipids and lipid-like molecules |
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Class | Sphingolipids |
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Sub Class | Glycosphingolipids |
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Direct Parent | Glycosyl-N-acylsphingosines |
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Alternative Parents | |
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Substituents | - Glycosyl-n-acylsphingosine
- Fatty acyl glycoside
- Fatty acyl glycoside of mono- or disaccharide
- Alkyl glycoside
- Hexose monosaccharide
- Glycosyl compound
- O-glycosyl compound
- Fatty amide
- Fatty acyl
- Monosaccharide
- N-acyl-amine
- Oxane
- Carboxamide group
- Secondary carboxylic acid amide
- Secondary alcohol
- Acetal
- Carboxylic acid derivative
- Oxacycle
- Organoheterocyclic compound
- Polyol
- Hydrocarbon derivative
- Organic oxide
- Organopnictogen compound
- Alcohol
- Organic oxygen compound
- Organic nitrogen compound
- Primary alcohol
- Carbonyl group
- Organooxygen compound
- Organonitrogen compound
- Aliphatic heteromonocyclic compound
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Molecular Framework | Aliphatic heteromonocyclic compounds |
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External Descriptors | |
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Ontology |
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Physiological effect | |
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Disposition | |
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Process | |
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Role | |
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Physical Properties |
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State | Solid |
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Experimental Molecular Properties | Property | Value | Reference |
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Melting Point | Not Available | Not Available | Boiling Point | Not Available | Not Available | Water Solubility | 0 | Not Available | LogP | Not Available | Not Available |
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Experimental Chromatographic Properties | Not Available |
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Predicted Molecular Properties | |
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Predicted Chromatographic Properties | Predicted Collision Cross SectionsPredicted Kovats Retention IndicesDerivatizedDerivative Name / Structure | SMILES | Kovats RI Value | Column Type | Reference |
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GlcCer(d18:1/22:0),1TMS,isomer #1 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5780.2 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #1 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5425.2 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #1 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7173.5 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #2 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5790.6 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #2 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5433.2 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #2 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7067.1 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #3 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5777.3 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #3 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5422.5 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #3 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7059.2 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #4 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5769.1 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #4 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5429.2 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #4 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7101.7 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #5 | CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5883.2 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #5 | CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5311.6 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #5 | CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7041.5 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #6 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C | 5749.8 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #6 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C | 5402.4 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TMS,isomer #6 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C | 7146.8 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #1 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C(C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5995.5 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #1 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C(C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5536.9 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #1 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C(C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7130.3 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #2 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5965.5 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #2 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5555.1 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #2 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7034.7 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #3 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C(C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5940.0 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #3 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C(C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5539.2 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #3 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C(C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7029.9 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #4 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C(C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5948.2 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #4 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C(C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5546.3 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #4 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C(C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7063.8 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #5 | CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 6071.9 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #5 | CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 5421.2 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #5 | CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC | 7003.7 | Standard polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #6 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C(C)(C)C | 5934.6 | Semi standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #6 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C(C)(C)C | 5487.6 | Standard non polar | 33892256 | GlcCer(d18:1/22:0),1TBDMS,isomer #6 | CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C(C)(C)C | 7090.5 | Standard polar | 33892256 |
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General References | - Hara A, Kitazawa N, Taketomi T: Abnormalities of glycosphingolipids in mucopolysaccharidosis type III B. J Lipid Res. 1984 Feb;25(2):175-84. [PubMed:6423755 ]
- Beutler E: Gaucher disease. Blood Rev. 1988 Mar;2(1):59-70. [PubMed:3289655 ]
- Kaye EM, Ullman MD, Wilson ER, Barranger JA: Type 2 and type 3 Gaucher disease: a morphological and biochemical study. Ann Neurol. 1986 Aug;20(2):223-30. [PubMed:3752966 ]
- Conradi NG, Kalimo H, Sourander P: Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher disease. Acta Neuropathol. 1988;75(4):385-90. [PubMed:3364161 ]
- Smith RL, Hutchins GM, Sack GH Jr, Ridolfi RL: Unusual cardiac, renal and pulmonary involvement in Gaucher's disease. Intersitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization. Am J Med. 1978 Aug;65(2):352-60. [PubMed:686020 ]
- Ohashi T: [Gene therapy for Gaucher disease]. Nihon Rinsho. 1995 Dec;53(12):3089-94. [PubMed:8577064 ]
- Nishimura RN, Barranger JA: Neurologic complications of Gaucher's disease, type 3. Arch Neurol. 1980 Feb;37(2):92-3. [PubMed:6766716 ]
- Eto Y, Ida H: [Molecular studies of Gaucher disease]. Rinsho Byori. 1996 Apr;44(4):327-34. [PubMed:8847814 ]
- Naito M, Takahashi K, Hojo H: An ultrastructural and experimental study on the development of tubular structures in the lysosomes of Gaucher cells. Lab Invest. 1988 May;58(5):590-8. [PubMed:3367638 ]
- Mariani G, Filocamo M, Giona F, Villa G, Amendola A, Erba P, Buffoni F, Copello F, Pierini A, Minichilli F, Gatti R, Brady RO: Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi. J Nucl Med. 2003 Aug;44(8):1253-62. [PubMed:12902415 ]
- Soffer D, Yamanaka T, Wenger DA, Suzuki K, Suzuki K: Central nervous system involvement in adult-onset Gaucher's disease. Acta Neuropathol. 1980;49(1):1-6. [PubMed:7355669 ]
- Ohashi T: [Gaucher disease]. Nihon Rinsho. 1995 Dec;53(12):2943-6. [PubMed:8577040 ]
- Starzl TE, Demetris AJ, Trucco M, Ricordi C, Ildstad S, Terasaki PI, Murase N, Kendall RS, Kocova M, Rudert WA, et al.: Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. N Engl J Med. 1993 Mar 18;328(11):745-9. [PubMed:8437594 ]
- Pilz H, Heipertz R: [Differential diagnosis of congenital lipidoses by lipid analyses of body fluids, biopsy and autopsy tissue]. Fortschr Neurol Psychiatr Grenzgeb. 1975 Nov;43(11):602-17. [PubMed:53174 ]
- Nilsson O, Grabowski GA, Ludman MD, Desnick RJ, Svennerholm L: Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants. Clin Genet. 1985 May;27(5):443-50. [PubMed:3924448 ]
- Harzer K, Massenkeil G, Frohlich E: Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders. FEBS Lett. 2003 Feb 27;537(1-3):177-81. [PubMed:12606053 ]
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed:178813 ]
- Adar T, Ben-Ami R, Elstein D, Zimran A, Berliner S, Yedgar S, Barshtein G: Aggregation of red blood cells in patients with Gaucher disease. Br J Haematol. 2006 Aug;134(4):432-7. Epub 2006 Jul 10. [PubMed:16827817 ]
- Dolen EG, Berdon WE, Ruzal-Shapiro C: "Cold bone scans" as a sign of hemorrhagic infarcts of the spine in Gaucher's disease. Pediatr Radiol. 1997 Jun;27(6):514-6. [PubMed:9174023 ]
- Daniels LB, Coyle PJ, Glew RH, Radin NS, Labow RS: Brain glucocerebrosidase in Gaucher's disease. Arch Neurol. 1982 Sep;39(9):550-6. [PubMed:6810854 ]
- Stirnemann J, Belmatoug N: [Adult Gaucher disease]. Rev Med Interne. 2001 Dec;22 Suppl 3:374s-383s. [PubMed:11794882 ]
- Erickson JS, Radin NS: N-hexyl-O-glucosyl sphingosine, an inhibitor of glucosyl ceramide -glucosidase. J Lipid Res. 1973 Mar;14(2):133-7. [PubMed:4698260 ]
- Deguchi H, Bouma BN, Middeldorp S, Lee YM, Griffin JH: Decreased plasma sensitivity to activated protein C by oral contraceptives is associated with decreases in plasma glucosylceramide. J Thromb Haemost. 2005 May;3(5):935-8. [PubMed:15869587 ]
- Shoenfeld Y, Gallant LA, Shaklai M, Livni E, Djaldetti M, Pinkhas J: Gaucher's disease: a disease with chronic stimulation of the immune system. Arch Pathol Lab Med. 1982 Aug;106(8):388-91. [PubMed:7049116 ]
- Ringden O, Groth CG, Erikson A, Granqvist S, Mansson JE, Sparrelid E: Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation. 1995 Mar 27;59(6):864-70. [PubMed:7701581 ]
- Nilsson O, Mansson JE, Hakansson G, Svennerholm L: The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease. Biochim Biophys Acta. 1982 Sep 14;712(3):453-63. [PubMed:7126619 ]
- Dann K, Althaus C, Kersten A, vom Dahl S, Sundmacher R: [Uveitis masquerade syndrome in Gaucher disease. Causal treatment by alglucerase substitution therapy]. Klin Monbl Augenheilkd. 1998 Dec;213(6):358-61. [PubMed:10048015 ]
- Conradi NG, Sourander P, Nilsson O, Svennerholm L, Erikson A: Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies. Acta Neuropathol. 1984;65(2):99-109. [PubMed:6524300 ]
- Beutler E: Gaucher disease: new molecular approaches to diagnosis and treatment. Science. 1992 May 8;256(5058):794-9. [PubMed:1589760 ]
- Owada M, Sakiyama T, Kitagawa T: Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver. Pediatr Res. 1977 May;11(5):641-6. [PubMed:870871 ]
- Nilsson O, Svennerholm L: Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem. 1982 Sep;39(3):709-18. [PubMed:7097276 ]
- Liu Y, Suzuki K, Reed JD, Grinberg A, Westphal H, Hoffmann A, Doring T, Sandhoff K, Proia RL: Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2503-8. [PubMed:9482915 ]
- Poll LW, Maas M, Terk MR, Roca-Espiau M, Bembi B, Ciana G, Weinreb NJ: Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol. 2002;75 Suppl 1:A25-36. [PubMed:12036830 ]
- Campbell PE, Harris CM, Harris CM, Sirimanna T, Vellodi A: A model of neuronopathic Gaucher disease. J Inherit Metab Dis. 2003;26(7):629-39. [PubMed:14707511 ]
- Schaison G, Caubel I, Belmatoug N, Billette de Villemeur T, Saudubray JM: [French results of enzyme replacement therapy in Gaucher's disease]. Bull Acad Natl Med. 2002;186(5):851-61; discussion 861-3. [PubMed:12412377 ]
- Hollak CE, Boot RG, Poorthuis BJ, Aerts JM: [From gene to disease; Gaucher disease]. Ned Tijdschr Geneeskd. 2005 Sep 24;149(39):2163-6. [PubMed:16223076 ]
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