Literature DB >> 1379046

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

T Beccari1, J Hoade, A Orlacchio, J L Stirling.   

Abstract

cDNAs encoding the mouse beta-N-acetylhexosaminidase alpha-subunit were isolated from a mouse testis library. The longest of these (1.7 kb) was sequenced and showed 83% similarity with the human alpha-subunit cDNA sequence. The 5' end of the coding sequence was obtained from a genomic DNA clone. Alignment of the human and mouse sequences showed that all three putative N-glycosylation sites are conserved, but that the mouse alpha-subunit has an additional site towards the C-terminus. All eight cysteines in the human sequence are conserved in the mouse. There are an additional two cysteines in the mouse alpha-subunit signal peptide. All amino acids affected in Tay-Sachs-disease mutations are conserved in the mouse.

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Year:  1992        PMID： 1379046      PMCID： PMC1132829          DOI： 10.1042/bj2850593

Source DB:  PubMed          Journal:  Biochem J        ISSN： 0264-6021            Impact factor:   3.857


  26 in total

1.  Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.

Authors:  B F O'Dowd; F Quan; H F Willard; A M Lamhonwah; R G Korneluk; J A Lowden; R A Gravel; D J Mahuran
Journal:  Proc Natl Acad Sci U S A       Date:  1985-02       Impact factor: 11.205

2.  Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.

Authors:  R L Proia
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

3.  Mutation in GM2-gangliosidosis B1 variant.

Authors:  K Ohno; K Suzuki
Journal:  J Neurochem       Date:  1988-01       Impact factor: 5.372

4.  A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.

Authors:  T Nakano; M Muscillo; K Ohno; A J Hoffman; K Suzuki
Journal:  J Neurochem       Date:  1988-09       Impact factor: 5.372

5.  A comprehensive set of sequence analysis programs for the VAX.

Authors:  J Devereux; P Haeberli; O Smithies
Journal:  Nucleic Acids Res       Date:  1984-01-11       Impact factor: 16.971

6.  Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.

Authors:  R Myerowitz; R Piekarz; E F Neufeld; T B Shows; K Suzuki
Journal:  Proc Natl Acad Sci U S A       Date:  1985-12       Impact factor: 11.205

7.  Organization of the gene encoding the human beta-hexosaminidase alpha-chain.

Authors:  R L Proia; E Soravia
Journal:  J Biol Chem       Date:  1987-04-25       Impact factor: 5.157

8.  The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.

Authors:  R Navon; R L Proia
Journal:  Science       Date:  1989-03-17       Impact factor: 47.728

9.  Identification of beta-N-acetylhexosaminidase A in mouse tissues with the fluorigenic substrate 4-methylumbelliferyl-beta-N-acetylglucosamine 6-sulphate.

Authors:  T Beccari; A Orlacchio; J L Stirling
Journal:  Biochem J       Date:  1988-06-01       Impact factor: 3.857

10.  Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.

Authors:  B F O'Dowd; D A Cumming; R A Gravel; D Mahuran
Journal:  Biochemistry       Date:  1988-07-12       Impact factor: 3.162
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  8 in total

1.  Cloning and sequence analysis of a cDNA clone coding for the mouse GM2 activator protein.

Authors:  G Bellachioma; J L Stirling; A Orlacchio; T Beccari
Journal:  Biochem J       Date:  1993-08-15       Impact factor: 3.857

2.  Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.

Authors:  M Cohen-Tannoudji; P Marchand; S Akli; S A Sheardown; J P Puech; C Kress; P Gressens; M C Nassogne; T Beccari; A L Muggleton-Harris
Journal:  Mamm Genome       Date:  1995-12       Impact factor: 2.957

3.  Molecular cloning and functional characterization of beta-N-acetylglucosaminidase genes from Sf9 cells.

Authors:  Jared J Aumiller; Jason R Hollister; Donald L Jarvis
Journal:  Protein Expr Purif       Date:  2005-12-27       Impact factor: 1.650

4.  Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

Authors:  D L Harmon; D Gardner-Medwin; J L Stirling
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

5.  A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

Authors:  Z Cao; M R Natowicz; M M Kaback; J S Lim-Steele; E M Prence; D Brown; T Chabot; B L Triggs-Raine
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

6.  Components of the antigen processing and presentation pathway revealed by gene expression microarray analysis following B cell antigen receptor (BCR) stimulation.

Authors:  Jamie A Lee; Robert S Sinkovits; Dennis Mock; Eva L Rab; Jennifer Cai; Peng Yang; Brian Saunders; Robert C Hsueh; Sangdun Choi; Shankar Subramaniam; Richard H Scheuermann
Journal:  BMC Bioinformatics       Date:  2006-05-02       Impact factor: 3.169

7.  New nucleotide sequence data on the EMBL File Server.

Authors: 
Journal:  Nucleic Acids Res       Date:  1992-10-25       Impact factor: 16.971

Review 8.  Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Authors:  Silvia Paciotti; Elisabetta Albi; Lucilla Parnetti; Tommaso Beccari
Journal:  J Clin Med       Date:  2020-02-21       Impact factor: 4.241
  8 in total

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