Literature DB >> 1829032

Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23----q24.

H Nakai1, M G Byers, N J Nowak, T B Shows.   

Abstract

Tay-Sachs disease results from a mutation in the alpha subunit of beta-hexosaminidase. Using a cDNA clone, we have mapped the gene to 15q23----q24 by in situ hybridization.

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Year:  1991        PMID： 1829032     DOI： 10.1159/000133077

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN： 0301-0171


  4 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

Review 2.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

3.  Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

Authors:  Amos Frisch; Roberto Colombo; Elena Michaelovsky; Mazal Karpati; Boleslaw Goldman; Leah Peleg
Journal:  Hum Genet       Date:  2004-01-15       Impact factor: 4.132

4.  A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside.

Authors:  Rohita Sharma; Scott Bukovac; John Callahan; Don Mahuran
Journal:  Biochim Biophys Acta       Date:  2003-01-20
  4 in total

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