Biochim Biophys Acta. 1998 Feb 27;1406(1):81-4.

Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.

Verginelli D, Luckow B, Crifò C, Salerno C, Gross M.

Source

Department of Biochemical Sciences, University of Roma La Sapienza, Italy.

Abstract

We determined the DNA sequence of the adenylosuccinate lyase (ASL) gene from a 13 year-old female, who showed a reduced ASL enzymatic activity in lymphocytes and red blood cells and suffered from severe psychomotor retardation. The patient was the offspring of a non-consanguineous marriage. She was found to be compound heterozygous for two missense-mutations located on different alleles (C300-G and G1266-T): the first mutation replaces Pro75 by Ala, the second mutation replaces Asp397 by Tyr.

PMID:: 9545543; [PubMed - indexed for MEDLINE]

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Research Support, Non-U.S. Gov't

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Adenylosuccinate Lyase

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Medical

ASL Gene - Genetics Home Reference

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Related citations in PubMed

A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. [Nat Genet. 1992]
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Cited by 1 PubMed Central article

The structure of phosphate-bound Escherichia coli adenylosuccinate lyase identifies His171 as a catalytic acid. [Acta Crystallogr Sect F Struct...]
The structure of phosphate-bound Escherichia coli adenylosuccinate lyase identifies His171 as a catalytic acid.
Kozlov G, Nguyen L, Pearsall J, Gehring K. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2009 Sep 1; 65(Pt 9):857-61. Epub 2009 Aug 20.

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