Isolation and expression of a full-length cDNA encoding the human G-M2 activator protein.Xie B., McInnes B., Neote K., Lamhonwah A.-M., Mahuran D.View abstractCited forNUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-59 AND VAL-69CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCBiochem. Biophys. Res. Commun. 177:1217-1223 (1991)Cited in1
Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.Klima H., Tanaka A., Schnabel D., Nakano T., Schroeder M., Suzuki K., Sandhoff K.View abstractCited forNUCLEOTIDE SEQUENCE [MRNA], VARIANTS THR-19; VAL-59 AND VAL-69CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCFEBS Lett. 289:260-264 (1991)Cited in1
Evidence for two cDNAs encoding human GM2-activator protein.Nagarajan S., Chen H.C., Li S.C., Li Y.T., Lockyer J.View abstractCited forNUCLEOTIDE SEQUENCE [MRNA]TissuePlacentaCategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCBiochem. J. 282:807-813 (1992)Cited in11
Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.Xie B., Kennedy J.L., McInnes B., Auger D., Mahuran D.J.View abstractCited forNUCLEOTIDE SEQUENCE [MRNA], VARIANTS THR-19; VAL-59 AND VAL-69CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCGenomics 14:796-798 (1992)Cited in1
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 D.J.View abstractCited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-19; VAL-59 AND VAL-69CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Hum. Genet. 65:77-87 (1999)Cited in1
Isolation of a cDNA encoding the human GM2 activator protein.Schroeder M., Klima H., Nakano T., Kwon H., Quintern L.E., Gaertner S., Suzuki K., Sandhoff K.View abstractCited forNUCLEOTIDE SEQUENCE [MRNA] OF 15-193, VARIANTS THR-19; VAL-59 AND VAL-69CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCFEBS Lett. 251:197-200 (1989)Cited in1
The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein.Furst W., Schubert J., Machleidt W., Meyer H.E., Sandhoff K.View abstractCited forPROTEIN SEQUENCE OF 32-193TissueKidneyCategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCEur. J. Biochem. 192:709-714 (1990)Cited in2
Development of an assay for the intermembrane transfer of cholesterol by Niemann-Pick C2 protein.Babalola J.O., Wendeler M., Breiden B., Arenz C., Schwarzmann G., Locatelli-Hoops S., Sandhoff K.View abstractCited forCATALYTIC ACTIVITYCategoriesFunctionSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCBiol. Chem. 388:617-626 (2007)Cited in2
Crystal structure of human GM2-activator protein with a novel beta-cup topology.Wright C.S., Li S.-C., Rastinejad F.View abstractCited forX-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS)CategoriesStructureSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCJ. Mol. Biol. 304:411-422 (2000)Cited in1Mapped to1
A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.Schroeder M., Schnabel D., Suzuki K., Sandhoff K.View abstractCited forVARIANT GM2GAB ARG-138CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCFEBS Lett. 290:1-3 (1991)Cited in1Mapped to2
Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.Schroder M., Schnabel D., Hurwitz R., Young E., Suzuki K., Sandhoff K.View abstractCited forVARIANT GM2GAB PRO-169CategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCHum. Genet. 92:437-440 (1993)Cited in1
Molecular analysis of a GM2-activator deficiency in two patients with GM2- gangliosidosis AB variant.Schepers U., Glombitza G., Lemm T., Hoffmann A., Chabas A., Ozand P., Sandhoff K.View abstractCited forVARIANT GM2GAB LYS-88 DELCategoriesSequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCAm. J. Hum. Genet. 59:1048-1056 (1996)Cited in1