225 related articles for article (PubMed ID: 6226462)
1. A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
Hechtman P; Khoo K; Isaacs C
Clin Genet; 1983 Sep; 24(3):206-15. PubMed ID: 6226462
[TBL] [Abstract][Full Text] [Related]
2. The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
Hechtman P; Boulay B; Bayleran J; Andermann E
Clin Genet; 1989 May; 35(5):364-75. PubMed ID: 2527097
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.
Bayleran J; Hechtman P; Kolodny E; Kaback M
Am J Hum Genet; 1987 Oct; 41(4):532-48. PubMed ID: 2959149
[TBL] [Abstract][Full Text] [Related]
6. Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A.
Navon R; Kopel R; Nutman J; Frisch A; Conzelmann E; Sandhoff K; Adam A
Am J Hum Genet; 1985 Jan; 37(1):138-46. PubMed ID: 3156493
[TBL] [Abstract][Full Text] [Related]
7. Hereditary heat-labile hexosaminidase B: its implication for recognizing Tay-Sachs genotypes.
Navon R; Nutman J; Kopel R; Gaber L; Gadoth N; Goldman B; Nitzan M
Am J Hum Genet; 1981 Nov; 33(6):907-15. PubMed ID: 6459736
[TBL] [Abstract][Full Text] [Related]
8. Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.
Prence EM; Zalewski I; Natowicz MR
Am J Med Genet; 1996 Nov; 65(4):320-4. PubMed ID: 8923943
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
Elsafi ME; Elbashir MI; Hultberg B; Isaksson A; Hägerstrand I; Stenram U
Scand J Clin Lab Invest; 1991 Dec; 51(8):711-4. PubMed ID: 1839650
[TBL] [Abstract][Full Text] [Related]
11. [Reconstruction of hexosaminidase isoenzymes during hybridization of fibroblasts from Tay-Sachs and Sandhoff diseases].
Beĭer EM; Vidershaĭn GIa; Venert M
Biull Eksp Biol Med; 1984 Jan; 97(1):83-6. PubMed ID: 6229294
[TBL] [Abstract][Full Text] [Related]
12. Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
Korneluk RG; Mahuran DJ; Neote K; Klavins MH; O'Dowd BF; Tropak M; Willard HF; Anderson MJ; Lowden JA; Gravel RA
J Biol Chem; 1986 Jun; 261(18):8407-13. PubMed ID: 3013851
[TBL] [Abstract][Full Text] [Related]
13. Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Akli S; Guidotti JE; Vigne E; Perricaudet M; Sandhoff K; Kahn A; Poenaru L
Gene Ther; 1996 Sep; 3(9):769-74. PubMed ID: 8875224
[TBL] [Abstract][Full Text] [Related]
14. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
Mark BL; Mahuran DJ; Cherney MM; Zhao D; Knapp S; James MN
J Mol Biol; 2003 Apr; 327(5):1093-109. PubMed ID: 12662933
[TBL] [Abstract][Full Text] [Related]
15. Identification of candidate active site residues in lysosomal beta-hexosaminidase A.
Fernandes MJ; Yew S; Leclerc D; Henrissat B; Vorgias CE; Gravel RA; Hechtman P; Kaplan F
J Biol Chem; 1997 Jan; 272(2):814-20. PubMed ID: 8995368
[TBL] [Abstract][Full Text] [Related]
16. Adult-onset GM2 gangliosidosis diagnosed in a fetus.
Navon R; Sandbank U; Frisch A; Baram D; Adam A
Prenat Diagn; 1986; 6(3):169-76. PubMed ID: 2941730
[TBL] [Abstract][Full Text] [Related]
17. W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
Petroulakis E; Cao Z; Clarke JT; Mahuran DJ; Lee G; Triggs-Raine B
Hum Mutat; 1998; 11(6):432-42. PubMed ID: 9603435
[TBL] [Abstract][Full Text] [Related]
18. The biochemical genetics of the hexosaminidase system in man.
Beutler E
Am J Hum Genet; 1979 Mar; 31(2):95-105. PubMed ID: 377957
[TBL] [Abstract][Full Text] [Related]
19. Thermal activation of hexosaminidase A in a genetic compound with Tay-Sachs disease.
Ben-Yoseph Y; Baylerian MS; Momoi T; Nadler HL
J Inherit Metab Dis; 1983; 6(3):95-100. PubMed ID: 6230486
[TBL] [Abstract][Full Text] [Related]
20. Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
Peleg L; Goldman B
Eur J Clin Chem Clin Biochem; 1994 Feb; 32(2):65-9. PubMed ID: 8003579
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
