Literature DB >> 1198108

Vitamin B6-responsive and -unresponsive cystathioninuria: two variant molecular forms.

T A Pascal, G E Gaull, N G Beratis, B M Gillam, H H Tallan, K Hirschhorn.   

Abstract

Cystathionase activity in a lymphoid cell line extracts from a vitamin B6-responsive patient with cystathioninuria was increased strikingly by pyridoxal phosphate. Immunodiffusion with antiserum to human hepatic cystathionase showed identity between this cystathionase protein and cystathionase from an extract of normal lymphoid cells. Neither an increase in cystathionase activity nor immunochemical identity was found using extract of cells from a B6-unresponsive patient.

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Year:  1975        PMID: 1198108     DOI: 10.1126/science.1198108

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  2 in total

1.  Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

Authors:  V Ramesh; A I McClatchey; N Ramesh; L A Benoit; E L Berson; V E Shih; J F Gusella
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

2.  Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Authors:  V E Shih; E L Berson; R Mandell; S Y Schmidt
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

  2 in total

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