Characterization of human placental β-hexosaminidase I₂: proteolytic processing intermediates of hexosaminidase AMAHURAN, D. J.The Journal of biological chemistry (Print). 1990, Vol 265, Num 12, pp 6794-6799, issn 0021-9258Article

The biochemistry of HEXA and HEXB gene mutations causing G_M2 gangliosidosisMAHURAN, D. J.Biochimica et biophysica acta. Molecular basis of disease. 1991, Vol 1096, Num 2, pp 87-94Article

Two small detection mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff diseaseMCINNES, B; BROWN, C. A; MAHURAN, D. J et al.Biochimica et biophysica acta. Molecular basis of disease. 1992, Vol 1138, Num 4, pp 315-317Article

A Cys₁₃₈-to-Arg subsitution in the G_M2 activator protein is associated with the AB variant form of G_M2 gangliosidosisBEI XIE; WEI WANG; MAHURAN, D. J et al.American journal of human genetics. 1992, Vol 50, Num 5, pp 1046-1052, issn 0002-9297Article

Active arginine residues in β-hexosaminidase : identification through studies of the B1 variant of tay-sachs diseaseBROWN, C. A; MAHURAN, D. J.The Journal of biological chemistry (Print). 1991, Vol 266, Num 24, pp 15855-15862, issn 0021-9258Article

Molecular genetics of β-hexosaminidase deficienciesNEOTE, K; MAHURAN, D. J; GRAVEL, R. A et al.Advances in neurology. 1991, Vol 56, pp 189-207, issn 0091-3952Article

β-Hexosaminidase isozymes from cells cotransfected with α and β cDNA constructs : analysis of the α-subunit missense mutation associated with the adult form of Tay-Sachs diseaseBROWN, C. A; MAHURAN, D. J.American journal of human genetics. 1993, Vol 53, Num 2, pp 497-508, issn 0002-9297Article

Structure and distribution of an alu-type deletion mutation in Sandhoff diseaseNEOTE, K; MCINNES, B; MAHURAN, D. J et al.The Journal of clinical investigation. 1990, Vol 86, Num 5, pp 1524-1531, issn 0021-9738Article

Improved concanavalin A-sepharose elution by specific readsorption of glycoproteinsCLEMENTS, P. R; MAHURAN, D. J; HOPWOOD, J. J et al.Journal of chromatography. 1983, Vol 261, Num 1, pp 77-82, issn 0021-9673Article

Ganglioside GM2-activator protein and vesicular transport in collecting duct intercalated cellsMUNDEL, T. M; HEID, H. W; MAHURAN, D. J et al.Journal of the American Society of Nephrology. 1999, Vol 10, Num 3, pp 435-443, issn 1046-6673Conference Paper

Evidence for the participation of β-hexosaminidase in human sperm-zona pellucida interaction in vitroMIRANDA, P. V; GONZALEZ-ECHEVERRIA, F; BLAQUIER, J. A et al.Molecular human reproduction. 2000, Vol 6, Num 8, pp 699-706, issn 1360-9947Article

Cloning and expression of rat histidase : homology to two bacterial histidases and four phenylalanine ammonia-lyasesTAYLOR, R. G; LAMBERT, M. A; SEXSMITH, E et al.The Journal of biological chemistry (Print). 1990, Vol 265, Num 30, pp 18192-18199, issn 0021-9258, 8 p.Article

Screening for carriers of Tay-Sachs disease among Ashkenazi JewsTRIGGS-RAINE, B. L; FEIGENBAUM, A. S. J; NATOWICZ, M et al.The New England journal of medicine. 1990, Vol 323, Num 1, pp 6-12, issn 0028-4793Article

Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiencyRUBIN, M; KARPATI, G; WOLFE, L. S et al.Journal of the neurological sciences. 1988, Vol 87, Num 1, pp 103-119, issn 0022-510XArticle

Introduction of the α subunit mutation associated with the B1 variant of tay-sachs disease into the β subunit produces a β-hexosaminidase B without catalytic activityBROWN, C. A; NEOTE, K; LEUNG, A et al.The Journal of biological chemistry (Print). 1989, Vol 264, Num 36, pp 21705-21710, issn 0021-9258, 6 p.Article

Identification of an altered splice site in Ashkenazi Tay-Sachs diseaseARPAIA, E; DUMBRILLE-ROSS, A; MAHURAN, D. J et al.Nature (London). 1988, Vol 333, Num 6168, pp 85-86, issn 0028-0836Article

Adult onset motor neuropathy in the juvenile type of hexosaminidase A and B deficiencyRUBIN, M; KARPATI, G; WOLFE, L. S et al.Journal of the neurological sciences. 1988, Vol 87, Num 1, pp 103-119, issn 0022-510XArticle

Isolation of cDNA clones coding for the α-subunit of human β-hexosaminidase: extensive homology between the α- and β-subunits and studies on tay-sachs diseaseKORNELUK, R. G; MAHURAN, D. J; NEOTE, K et al.The Journal of biological chemistry (Print). 1986, Vol 261, Num 18, pp 8407-8413, issn 0021-9258Article

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant G_M2 gangliosidosis)O'DOWD, B. F; KLAVINS, M. H; WILLARD, H. F et al.The Journal of biological chemistry (Print). 1986, Vol 261, Num 27, pp 12680-12685, issn 0021-9258Article

Assessing the severity of the small inframe deletion mutation in the α-subunit of β-hexosaminidase A found in the Turkish population by reproducing it in the more stable β-subunitSINICI, I; TROPAK, M. B; MAHURAN, D. J et al.Journal of inherited metabolic disease. 2004, Vol 27, Num 6, pp 747-756, issn 0141-8955, 10 p.Article

Refined mapping of the G_M2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locusHENG, H. H. Q; BEI XIE; XIAO-MEI SHI et al.Genomics (San Diego, Calif.). 1993, Vol 18, Num 2, pp 429-431, issn 0888-7543Article

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoof diseaseBROWN, C. A; MCINNES, B; DODELSON DE KREMER, R et al.Biochimica et biophysica acta. Molecular basis of disease. 1992, Vol 1180, Num 1, pp 91-98, issn 0925-4439Article

Translation initiation in the HEXB gene encoding the β-subunit of human β-hexosaminidaseNEOTE, K; BROWN, C. A; MAHURAN, D. J et al.The Journal of biological chemistry (Print). 1990, Vol 265, Num 34, pp 20799-20806, issn 0021-9258, 8 p.Article