Literature DB >> 126209

Types of enzymatic overdosing in trisomy 21: erythrocytic superoxide dismutase-AJ and phosphoglucomutase.

R Prişcu, S Sichitiu.   

Abstract

A comparative study was carried out on the hemolysates of 6 trisomic 21 and 6 normal subjects, by electrophoresis in starch gel, determining by a combined staining method both SOD-A (former IPO-dimer) and PGM activity. The enzymes were found statistically to be in a hyperactive status, the ratio of trisomic to normal values being approximately equalt to 1.4. SOD-A supraactivation is the effect of a genic dose, as demonstrated in earlier works (Sichitiu, 1973; Sichitiu et al., 1974; Sinet et al., 1974), whereas PGM hyperactivity appears to be modified secondarily, the same as the activity of other cellular enzymes in Down's disease.

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Year:  1975        PMID： 126209     DOI： 10.1007/bf00273353

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  11 in total

1.  PHOSPHOGLUCOMUTASE POLYMORPHISM IN MAN.

Authors:  N SPENCER; D A HOPKINSON; H HARRIS
Journal:  Nature       Date:  1964-11-21       Impact factor: 49.962

2.  [Study of somatic chromosomes from 9 mongoloid children].

Authors:  J LEJEUNE; M GAUTIER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1959-03-16

3.  [Overactivity of the indophenol oxidase (form dimeric) in the trisomy 21, secondary to triplicated gene (author's transl)].

Authors:  S Sichitiu; P M Sinet; J Lejeune; J Frézal
Journal:  Humangenetik       Date:  1974-06-26

4.  Achromatic regions of tetrazolium stained starch gels: inherited electrophoretic variation.

Authors:  G J Brewer
Journal:  Am J Hum Genet       Date:  1967-09       Impact factor: 11.025

5.  [Probable existence of a 2d AK locus linked with the PGM 1 -peptidase C group].

Authors:  C Billardon; R Rebourcet; C Le Borgne de Kaouel; J Y Picard; D Weil; J Frézal
Journal:  Ann Genet       Date:  1972-12

Review 6.  Down's syndrome. A critical review of the biochemical and immunological data.

Authors:  D Y Hsia; G F Smith; R M Dowben; P Justice
Journal:  Am J Dis Child       Date:  1971-02

7.  [Increase of erythrocyte superoxide dismutase activity in trisomy for chromosome 21].

Authors:  P M Sinet; D Allard; J Lejeune; H Jérôme
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1974-06-17

8.  Superoxide dismutase: improved assays and an assay applicable to acrylamide gels.

Authors:  C Beauchamp; I Fridovich
Journal:  Anal Biochem       Date:  1971-11       Impact factor: 3.365

9.  ERYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN CAUCASIANS: NEW INHERITED VARIANT.

Authors:  T B SHOWS; R E TASHIAN; G J BREWER; R J DERN
Journal:  Science       Date:  1964-09-04       Impact factor: 47.728

10.  The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21.

Authors:  Y H Tan; J Tischfield; F H Ruddle
Journal:  J Exp Med       Date:  1973-02-01       Impact factor: 14.307
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  1 in total

1.  Down syndrome: gene dosage at the transcriptional level in skin fibroblasts.

Authors:  D M Kurnit
Journal:  Proc Natl Acad Sci U S A       Date:  1979-05       Impact factor: 11.205
  1 in total

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