209 related articles for article (PubMed ID: 377957)
21. Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms.
Kustermann-Kuhn B; Harzer K
Hum Genet; 1983; 65(2):172-5. PubMed ID: 6228513
[TBL] [Abstract][Full Text] [Related]
22. Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.
Lemieux MJ; Mark BL; Cherney MM; Withers SG; Mahuran DJ; James MN
J Mol Biol; 2006 Jun; 359(4):913-29. PubMed ID: 16698036
[TBL] [Abstract][Full Text] [Related]
23. Identification of the 6-sulfate binding site unique to alpha-subunit-containing isozymes of human beta-hexosaminidase.
Sharma R; Deng H; Leung A; Mahuran D
Biochemistry; 2001 May; 40(18):5440-6. PubMed ID: 11331008
[TBL] [Abstract][Full Text] [Related]
24. Characterization of polypeptides serologically and structurally related to hexosaminidase in cultured fibroblasts.
Tsui F; Mahuran DJ; Lowden JA; Mosmann T; Gravel RA
J Clin Invest; 1983 Apr; 71(4):965-73. PubMed ID: 6833496
[TBL] [Abstract][Full Text] [Related]
25. Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.
Karumuthil-Melethil S; Nagabhushan Kalburgi S; Thompson P; Tropak M; Kaytor MD; Keimel JG; Mark BL; Mahuran D; Walia JS; Gray SJ
Hum Gene Ther; 2016 Jul; 27(7):509-21. PubMed ID: 27197548
[TBL] [Abstract][Full Text] [Related]
26. Two abnormalities of hexosaminidase A in clinically normal individuals.
Grebner EE; Mansfield DA; Raghavan SS; Kolodny EH; d'Azzo A; Neufeld EF; Jackson LG
Am J Hum Genet; 1986 Apr; 38(4):505-14. PubMed ID: 2939713
[TBL] [Abstract][Full Text] [Related]
27. Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
Bayleran J; Hechtman P; Saray W
Clin Chim Acta; 1984 Nov; 143(2):73-89. PubMed ID: 6239713
[TBL] [Abstract][Full Text] [Related]
28. Discrimination of the isozymes of human placental hexosaminidase by kinetic parameter estimation.
Tommasini R; Mahuran DJ; Lowden JA
Can J Biochem Cell Biol; 1985 Mar; 63(3):219-24. PubMed ID: 3986668
[TBL] [Abstract][Full Text] [Related]
29. Molecular forms of beta-N-acetylhexosaminidase in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with Tay-Sachs disease.
Salvayre R; Maret A; Negre A; Lenoir G; Vuillaume M; Icart J; Didier J; Douste-Blazy L
Eur J Biochem; 1983 Jul; 133(3):627-33. PubMed ID: 6305653
[TBL] [Abstract][Full Text] [Related]
30. Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
Norflus F; Yamanaka S; Proia RL
DNA Cell Biol; 1996 Feb; 15(2):89-97. PubMed ID: 8634145
[TBL] [Abstract][Full Text] [Related]
31. Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides.
Trasler J; Saberi F; Somani IH; Adamali HI; Huang JQ; Fortunato SR; Ritter G; Gu M; Aebersold R; Gravel RA; Hermo L
Endocrinology; 1998 Jul; 139(7):3280-8. PubMed ID: 9645704
[TBL] [Abstract][Full Text] [Related]
32. A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.
Ou L; Przybilla MJ; Tăbăran AF; Overn P; O'Sullivan MG; Jiang X; Sidhu R; Kell PJ; Ory DS; Whitley CB
Gene Ther; 2020 May; 27(5):226-236. PubMed ID: 31896760
[TBL] [Abstract][Full Text] [Related]
33. Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.
Osmon KJ; Woodley E; Thompson P; Ong K; Karumuthil-Melethil S; Keimel JG; Mark BL; Mahuran D; Gray SJ; Walia JS
Hum Gene Ther; 2016 Jul; 27(7):497-508. PubMed ID: 27199088
[TBL] [Abstract][Full Text] [Related]
34. Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.
O'Brien JS; Tennant L; Veath ML; Scott CR; Bucknall WE
Am J Hum Genet; 1978 Nov; 30(6):602-8. PubMed ID: 747188
[TBL] [Abstract][Full Text] [Related]
35. Biochemical consequences of mutations causing the GM2 gangliosidoses.
Mahuran DJ
Biochim Biophys Acta; 1999 Oct; 1455(2-3):105-38. PubMed ID: 10571007
[TBL] [Abstract][Full Text] [Related]
36. Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion.
Wood S
Hum Genet; 1978 Apr; 41(3):325-9. PubMed ID: 417993
[TBL] [Abstract][Full Text] [Related]
37. Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice Using an Intravenous Self-Complementary Hexosaminidase Vector.
Osmon KJ; Thompson P; Woodley E; Karumuthil-Melethil S; Heindel C; Keimel JG; Kaemmerer WF; Gray SJ; Walia JS
Curr Gene Ther; 2022; 22(3):262-276. PubMed ID: 34530708
[TBL] [Abstract][Full Text] [Related]
38. Serum beta-hexosaminidases in pregnancy.
Lowden JA
Clin Chim Acta; 1979 May; 93(3):409-17. PubMed ID: 445857
[TBL] [Abstract][Full Text] [Related]
39. Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Adams C; Green S
Dev Med Child Neurol; 1986 Apr; 28(2):236-43. PubMed ID: 2940136
[TBL] [Abstract][Full Text] [Related]
40. Epstein-Barr virus transformed lymphoid cell lines as a new model system in culture for the study of GM2-gangliosidoses: Tay-Sachs and Sandhoff diseases.
Maret A; Salvayre R; Negre A; Bes JC; Douste-Blazy L
Biol Cell; 1985; 53(3):293-6. PubMed ID: 2990625
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
