Literature DB >> 1825792

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.

D J Mahuran1.   

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Year:  1991        PMID: 1825792     DOI: 10.1016/0925-4439(91)90044-a

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


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  20 in total

1.  Role of beta Arg211 in the active site of human beta-hexosaminidase B.

Authors:  Y Hou; D Vocadlo; S Withers; D Mahuran
Journal:  Biochemistry       Date:  2000-05-23       Impact factor: 3.162

2.  Restricting expression prolongs expression of foreign genes introduced into animals by retroviruses.

Authors:  V B Pinto; S Prasad; J Yewdell; J Bennink; S H Hughes
Journal:  J Virol       Date:  2000-11       Impact factor: 5.103

3.  Cloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme.

Authors:  T Beccari; J Hoade; A Orlacchio; J L Stirling
Journal:  Biochem J       Date:  1992-07-15       Impact factor: 3.857

4.  A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.

Authors:  P J Ainsworth; M B Coulter-Mackie
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

5.  A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.

Authors:  B Xie; W Wang; D J Mahuran
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

6.  A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates.

Authors:  Michael B Tropak; Scott W Bukovac; Brigitte A Rigat; Sayuri Yonekawa; Warren Wakarchuk; Don J Mahuran
Journal:  Glycobiology       Date:  2009-11-16       Impact factor: 4.313

7.  The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.

Authors:  Y Hou; G Vavougios; A Hinek; K K Wu; P Hechtman; F Kaplan; D J Mahuran
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

8.  beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.

Authors:  C A Brown; D J Mahuran
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

9.  An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

Authors:  B McInnes; M Potier; N Wakamatsu; S B Melancon; M H Klavins; S Tsuji; D J Mahuran
Journal:  J Clin Invest       Date:  1992-08       Impact factor: 14.808

10.  Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

Authors:  Michael B Tropak; Stephen P Reid; Marianne Guiral; Stephen G Withers; Don Mahuran
Journal:  J Biol Chem       Date:  2004-01-14       Impact factor: 5.157

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