Literature DB >> 868875

Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".

J C Dreyfus, L Poenaru, M Vibert, N Ravise, J Boue.   

Abstract

A family (father and daughter) was found with a deficiency of hexosaminidase (HEX A and HEX B). Residual HEX A activity was about 30% of usual heterozygotes with very little HEX B activity. Thermostability of HEX A was decreased. No immunological cross reacting material was found for HEX A or B. The mechanism seems to be the production of abnormal, unstable beta subunits, which are still capable of combining with alpha subunits to form functional HEX A.

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Year:  1977        PMID： 868875      PMCID： PMC1685303     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  15 in total

1.  Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes.

Authors:  E Beutler; W Kuhl
Journal:  Nature       Date:  1975-11-20       Impact factor: 49.962

2.  Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

Authors:  J U Ikonne; M C Rattazzi; R J Desnick
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

3.  [Value in prenatal diagnosis of new technics for chromosome identification in translocations and a recombination aneusomia].

Authors:  J Boué; A Boué
Journal:  Nouv Presse Med       Date:  1973-12

4.  Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.

Authors:  J Vidgoff; N R Buist; J S O'Brien
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

5.  Electrophoretic study of hexosaminidases. Hexosaminidase C.

Authors:  L Poenaru; J C Dreyfus
Journal:  Clin Chim Acta       Date:  1973-02-12       Impact factor: 3.786

6.  Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

Authors:  R Navon; B Padeh; A Adam
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

7.  Electrophoretic separation of -N-acetylhexosaminidases of human and bovine brain and liver and of Tay-Sachs brain tissue.

Authors:  G J Hooghwinkel; W A Veltkamp; B Overdijk; J J Lisman
Journal:  Hoppe Seylers Z Physiol Chem       Date:  1972-05

8.  [Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses].

Authors:  J C Dreyfus; L Poenaru
Journal:  Arch Fr Pediatr       Date:  1975 Jun-Jul

9.  Studies on human beta-D-N-acetylhexosaminidases. 3. Biochemical genetics of Tay-Sachs and Sandhoff's diseases.

Authors:  S K Srivastava; E Beutler
Journal:  J Biol Chem       Date:  1974-04-10       Impact factor: 5.157

10.  Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

Authors:  J S O'Brien; S Okada; A Chen; D L Fillerup
Journal:  N Engl J Med       Date:  1970-07-02       Impact factor: 91.245
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  7 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A.

Authors:  R Navon; R Kopel; J Nutman; A Frisch; E Conzelmann; K Sandhoff; A Adam
Journal:  Am J Hum Genet       Date:  1985-01       Impact factor: 11.025

Review 3.  "Pseudodeficiencies" of lysosomal hydrolases.

Authors:  G H Thomas
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

4.  Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.

Authors:  Tyler Mark Pierson; Paola A Torres; Bei-Jin Zeng; Allan M Glanzman; David Adams; Richard S Finkel; Don J Mahuran; Gregory M Pastores; Gihan I Tennekoon; Edwin H Kolodny
Journal:  Mol Genet Metab       Date:  2012-11-02       Impact factor: 4.797

5.  Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

Authors:  E Conzelmann; H J Kytzia; R Navon; K Sandhoff
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

6.  Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound.

Authors:  M Philippart; R E Carrel; B H Landing
Journal:  Neurochem Res       Date:  1995-11       Impact factor: 3.996

7.  Hereditary heat-labile hexosaminidase B: its implication for recognizing Tay-Sachs genotypes.

Authors:  R Navon; J Nutman; R Kopel; L Gaber; N Gadoth; B Goldman; M Nitzan
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025
  7 in total

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