182 related articles for article (PubMed ID: 2140574)
1. Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.
Paw BH; Moskowitz SM; Uhrhammer N; Wright N; Kaback MM; Neufeld EF
J Biol Chem; 1990 Jun; 265(16):9452-7. PubMed ID: 2140574
[TBL] [Abstract][Full Text] [Related]
2. Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
Paw BH; Kaback MM; Neufeld EF
Proc Natl Acad Sci U S A; 1989 Apr; 86(7):2413-7. PubMed ID: 2522660
[TBL] [Abstract][Full Text] [Related]
3. Mutation in GM2-gangliosidosis B1 variant.
Ohno K; Suzuki K
J Neurochem; 1988 Jan; 50(1):316-8. PubMed ID: 2961848
[TBL] [Abstract][Full Text] [Related]
4. A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
Paw BH; Wood LC; Neufeld EF
Am J Hum Genet; 1991 Jun; 48(6):1139-46. PubMed ID: 1827944
[TBL] [Abstract][Full Text] [Related]
5. Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
Ribeiro MG; Sonin T; Pinto RA; Fontes A; Ribeiro H; Pinto E; Palmeira MM; Sá Miranda MC
J Med Genet; 1996 Apr; 33(4):341-3. PubMed ID: 8730294
[TBL] [Abstract][Full Text] [Related]
6. A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
Akli S; Chelly J; Mezard C; Gandy S; Kahn A; Poenaru L
J Biol Chem; 1990 May; 265(13):7324-30. PubMed ID: 2139660
[TBL] [Abstract][Full Text] [Related]
7. Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
Suzuki K; Vanier MT
Dev Neurosci; 1991; 13(4-5):288-94. PubMed ID: 1840099
[TBL] [Abstract][Full Text] [Related]
8. A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
Hou Y; McInnes B; Hinek A; Karpati G; Mahuran D
J Biol Chem; 1998 Aug; 273(33):21386-92. PubMed ID: 9694901
[TBL] [Abstract][Full Text] [Related]
9. Molecular and clinical heterogeneity of adult GM2 gangliosidosis.
Navon R
Dev Neurosci; 1991; 13(4-5):295-8. PubMed ID: 1840100
[TBL] [Abstract][Full Text] [Related]
10. GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.
Tanaka A; Ohno K; Sandhoff K; Maire I; Kolodny EH; Brown A; Suzuki K
Am J Hum Genet; 1990 Feb; 46(2):329-39. PubMed ID: 2137287
[TBL] [Abstract][Full Text] [Related]
11. Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2 ganglioside complex by beta-hexosaminidase A.
Xie B; Rigat B; Smiljanic-Georgijev N; Deng H; Mahuran D
Biochemistry; 1998 Jan; 37(3):814-21. PubMed ID: 9454570
[TBL] [Abstract][Full Text] [Related]
12. Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
Brown CA; Mahuran DJ
J Biol Chem; 1991 Aug; 266(24):15855-62. PubMed ID: 1831451
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
Mules EH; Dowling CE; Petersen MB; Kazazian HH; Thomas GH
Am J Hum Genet; 1991 Jun; 48(6):1181-5. PubMed ID: 1827945
[TBL] [Abstract][Full Text] [Related]
14. Presence of beta-hexosaminidase A alpha-chain mRNA in two different variants of GM2-gangliosidosis.
Budde-Steffen C; Steffen M; Siegel DA; Suzuki K
Neuropediatrics; 1988 May; 19(2):59-61. PubMed ID: 2967444
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
Trop I; Kaplan F; Brown C; Mahuran D; Hechtman P
Hum Mutat; 1992; 1(1):35-9. PubMed ID: 1301189
[TBL] [Abstract][Full Text] [Related]
17. Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity.
Brown CA; Neote K; Leung A; Gravel RA; Mahuran DJ
J Biol Chem; 1989 Dec; 264(36):21705-10. PubMed ID: 2532211
[TBL] [Abstract][Full Text] [Related]
18. Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
Sango K; McDonald MP; Crawley JN; Mack ML; Tifft CJ; Skop E; Starr CM; Hoffmann A; Sandhoff K; Suzuki K; Proia RL
Nat Genet; 1996 Nov; 14(3):348-52. PubMed ID: 8896570
[TBL] [Abstract][Full Text] [Related]
19. Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis.
Sonderfeld S; Brendler S; Sandhoff K; Galjaard H; Hoogeveen AT
Hum Genet; 1985; 71(3):196-200. PubMed ID: 2933318
[TBL] [Abstract][Full Text] [Related]
20. GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.
dos Santos MR; Tanaka A; sá Miranda MC; Ribeiro MG; Maia M; Suzuki K
Am J Hum Genet; 1991 Oct; 49(4):886-90. PubMed ID: 1832817
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
