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Results: 9

1.

My journey into the world of sphingolipids and sphingolipidoses.

Sandhoff K.

Proc Jpn Acad Ser B Phys Biol Sci. 2012;88(10):554-82. Review.

PMID:
23229750
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Multi-system disorders of glycosphingolipid and ganglioside metabolism.

Xu YH, Barnes S, Sun Y, Grabowski GA.

J Lipid Res. 2010 Jul;51(7):1643-75. doi: 10.1194/jlr.R003996. Epub 2010 Mar 8. Review.

PMID:
20211931
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Ligand extraction properties of the GM2 activator protein and its interactions with lipid vesicles.

Ran Y, Fanucci GE.

Biophys J. 2009 Jul 8;97(1):257-66. doi: 10.1016/j.bpj.2009.03.065.

PMID:
19580763
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Biosynthesis and degradation of mammalian glycosphingolipids.

Sandhoff K, Kolter T.

Philos Trans R Soc Lond B Biol Sci. 2003 May 29;358(1433):847-61. Review.

PMID:
12803917
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.

Chen B, Rigat B, Curry C, Mahuran DJ.

Am J Hum Genet. 1999 Jul;65(1):77-87.

PMID:
10364519
[PubMed - indexed for MEDLINE]
Free PMC Article
6.
7.

Over-expression of a functionally active human GM2-activator protein in Escherichia coli.

Klima H, Klein A, van Echten G, Schwarzmann G, Suzuki K, Sandhoff K.

Biochem J. 1993 Jun 1;292 ( Pt 2):571-6.

PMID:
8503891
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Cloning and sequence analysis of a cDNA clone coding for the mouse GM2 activator protein.

Bellachioma G, Stirling JL, Orlacchio A, Beccari T.

Biochem J. 1993 Aug 15;294 ( Pt 1):227-30.

PMID:
7689829
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.

Xie B, Wang W, Mahuran DJ.

Am J Hum Genet. 1992 May;50(5):1046-52.

PMID:
1570834
[PubMed - indexed for MEDLINE]
Free PMC Article

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