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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

SGM1  -  segmentation syndrome 1

Homo sapiens

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High impact information on SGM1

  • Capitalizing on the readily available ganglioside, GM1, we have devised a simple synthesis of labeled GM1 analogues with sulfur in place of oxygen in their linkage to the ceramide residue (SGM1) [1].
  • Subsequent actions of GM1-beta-galactosidase, beta-hexosaminidase A, sialidase and again GM1-beta-galactosidase on these labeled analogues of SGM1 in the presence of taurodeoxycholate produced the respective analogues of GM2, GM3, lactosylceramide and glucosylceramide, respectively [1].
  • This lyso-SGM1 was converted into labeled analogues of SGM1 using the N-succinimidoyl derivative of radiocarbon-labeled octanoic and octadecanoic acid, respectively [1].
  • The first KFS gene (SGM1) locus identified on chromosome 8 segregates with vertebral fusions and associated vocal impairment within the KF2-01 family (Clarke et al., '94, '95) [2].

References

  1. Synthesis of ganglioside GM1 containing a thioglycosidic bond to its labeled ceramide(s). A facile synthesis starting from natural gangliosides. Schwarzmann, G., Hofmann, P., Pütz, U. Carbohydr. Res. (1997) [Pubmed]
  2. Patterned expression in familial Klippel-Feil syndrome. Clarke, R.A., Kearsley, J.H., Walsh, D.A. Teratology (1996) [Pubmed]
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