224 related articles for article (PubMed ID: 3017984)
1. Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).
O'Dowd BF; Klavins MH; Willard HF; Gravel R; Lowden JA; Mahuran DJ
J Biol Chem; 1986 Sep; 261(27):12680-5. PubMed ID: 3017984
[TBL] [Abstract][Full Text] [Related]
2. Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
McInnes B; Brown CA; Mahuran DJ
Biochim Biophys Acta; 1992 Apr; 1138(4):315-7. PubMed ID: 1532910
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L; de Olano N; Macías-Vidal J; Coll MA;
Gene; 2012 Sep; 506(1):25-30. PubMed ID: 22789865
[TBL] [Abstract][Full Text] [Related]
5. Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.
O'Dowd BF; Quan F; Willard HF; Lamhonwah AM; Korneluk RG; Lowden JA; Gravel RA; Mahuran DJ
Proc Natl Acad Sci U S A; 1985 Feb; 82(4):1184-8. PubMed ID: 2579389
[TBL] [Abstract][Full Text] [Related]
6. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I; Mahuran DJ; Salvayre R; Dubas F; Levade T
Biochim Biophys Acta; 1996 Nov; 1317(2):127-33. PubMed ID: 8950198
[TBL] [Abstract][Full Text] [Related]
7. Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.
Arfi A; Bourgoin C; Basso L; Emiliani C; Tancini B; Chigorno V; Li YT; Orlacchio A; Poenaru L; Sonnino S; Caillaud C
Neurobiol Dis; 2005 Nov; 20(2):583-93. PubMed ID: 15953731
[TBL] [Abstract][Full Text] [Related]
8. Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice.
Itakura T; Kuroki A; Ishibashi Y; Tsuji D; Kawashita E; Higashine Y; Sakuraba H; Yamanaka S; Itoh K
Biol Pharm Bull; 2006 Aug; 29(8):1564-9. PubMed ID: 16880605
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
Neote K; McInnes B; Mahuran DJ; Gravel RA
J Clin Invest; 1990 Nov; 86(5):1524-31. PubMed ID: 2147027
[TBL] [Abstract][Full Text] [Related]
11. [Lysosome disease--Sandhoff disease].
Eguchi I; Wakamatsu N; Nakano R; Tsuji S
Nihon Rinsho; 1993 Sep; 51(9):2276-80. PubMed ID: 8411702
[TBL] [Abstract][Full Text] [Related]
12. Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
Utsumi K; Tsuji A; Kase R; Tanaka A; Tanaka T; Uyama E; Ozawa T; Sakuraba H; Komaba Y; Kawabe M; Iino Y; Katayama Y
Acta Neurol Scand; 2002 Jun; 105(6):427-30. PubMed ID: 12027830
[TBL] [Abstract][Full Text] [Related]
13. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
McInnes B; Potier M; Wakamatsu N; Melancon SB; Klavins MH; Tsuji S; Mahuran DJ
J Clin Invest; 1992 Aug; 90(2):306-14. PubMed ID: 1386607
[TBL] [Abstract][Full Text] [Related]
14. Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
Zhang ZX; Wakamatsu N; Mules EH; Thomas GH; Gravel RA
Hum Mol Genet; 1994 Jan; 3(1):139-45. PubMed ID: 8162015
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.
Brown CA; McInnes B; de Kremer RD; Mahuran DJ
Biochim Biophys Acta; 1992 Oct; 1180(1):91-8. PubMed ID: 1390948
[TBL] [Abstract][Full Text] [Related]
17. Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.
Akeboshi H; Chiba Y; Kasahara Y; Takashiba M; Takaoka Y; Ohsawa M; Tajima Y; Kawashima I; Tsuji D; Itoh K; Sakuraba H; Jigami Y
Appl Environ Microbiol; 2007 Aug; 73(15):4805-12. PubMed ID: 17557860
[TBL] [Abstract][Full Text] [Related]
18. Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.
Bolhuis PA; Ponne NJ; Bikker H; Baas F; Vianney de Jong JM
Biochim Biophys Acta; 1993 Sep; 1182(2):142-6. PubMed ID: 8357844
[TBL] [Abstract][Full Text] [Related]
19. Validity of lymphoid cell line for enzymatic studies of GM2-gangliosidosis variant 0 (Sandhoff disease).
Maret A; Salvayre R; Radon J; Hardy M; Vuillaume M; Lenoir G; Douste-Blazy L
Enzyme; 1985; 34(1):48-56. PubMed ID: 3002784
[TBL] [Abstract][Full Text] [Related]
20. Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.
Wang P; Henthorn PS; Galban E; Lin G; Takedai T; Casal M
J Vet Intern Med; 2018 Jan; 32(1):340-347. PubMed ID: 29106755
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
