当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.

Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.

Abstract：

:Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation caused by deficiency of glycosylasparaginase (GA). A deletion mutation was found in a mildly affected AGU patient whose parents are first-cousins of Mauritian origin. One bp deletion at position 787 or 788 (delta T788) in exon 7 of the GA gene resulted in a frameshift and produced an immediate stop codon. The resulting truncated polypeptide was defective in its post-translational proteolytic processing and remained as a single chain (36 kDa) with no GA activity.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Park H,Rossiter M,Fensom AH,Winchester B,Aronson NN Jr

doi

10.1007/BF01799351

subject

Has Abstract

pub_date

1996-01-01 00:00:00

pages

76-83

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

19

pub_type

杂志文章

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