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Substitution of alanine543 with a threonine residue at the carboxy terminal end of the beta-chain is associated with thermolabile hexosaminidase B in a Jewish family of Oriental ancestry.
De Gasperi R, Gama Sosa MA, Grebner EE, Mansfield D, Battistini S, Sartorato EL, Raghavan SS, Davis JG, Kolodny EH. De Gasperi R, et al. Among authors: gama sosa ma. Biochem Mol Med. 1995 Oct;56(1):31-6. doi: 10.1006/bmme.1995.1053. Biochem Mol Med. 1995. PMID: 8593535 Free article.
Molecular basis of late-life globoid cell leukodystrophy.
De Gasperi R, Gama Sosa MA, Sartorato E, Battistini S, Raghavan S, Kolodny EH. De Gasperi R, et al. Among authors: gama sosa ma. Hum Mutat. 1999;14(3):256-62. doi: 10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6. Hum Mutat. 1999. PMID: 10477434
Transgenic rescue of Krabbe disease in the twitcher mouse.
De Gasperi R, Friedrich VL, Perez GM, Senturk E, Wen PH, Kelley K, Elder GA, Gama Sosa MA. De Gasperi R, et al. Among authors: gama sosa ma. Gene Ther. 2004 Aug;11(15):1188-94. doi: 10.1038/sj.gt.3302282. Gene Ther. 2004. PMID: 15164096
80 results