Drosophila Model of Human Inherited Triosephosphate Isomerase Deficiency Glycolytic Enzymopathy
نویسندگان
چکیده
منابع مشابه
Drosophila model of human inherited triosephosphate isomerase deficiency glycolytic enzymopathy.
Heritable mutations, known as inborn errors of metabolism, cause numerous devastating human diseases, typically as a result of a deficiency in essential metabolic products or the accumulation of toxic intermediates. We have isolated a missense mutation in the Drosophila sugarkill (sgk) gene that causes phenotypes analogous to symptoms of triosephosphate isomerase (TPI) deficiency, a human famil...
متن کاملPrenatal diagnosis of triosephosphate isomerase deficiency.
First-trimester prenatal diagnosis was undertaken by chorionic villus DNA analysis in two unrelated families with the inherited glycolytic disorder triosephosphate isomerase (TPI) deficiency. The propositus in each family was shown to be homozygous for a missense mutation (GAG --> GAC) at codon 104 of the TPI gene. In the first case the fetus was heterozygous for the codon 104 mutation and ther...
متن کاملTriosephosphate isomerase deficiency: a neurodegenerative misfolding disease.
A number of neurodegenerative diseases are mediated by mutation-induced protein misfolding. The resulting genetic defects, however, are expressed in varying phenotypes. Of the several well-established glycolytic enzyme deficiencies, triosephosphate isomerase (TPI) deficiency is the only one in which haemolytic anaemia is coupled with progressive, severe neurological disorder. In a Hungarian fam...
متن کاملPrimary structure of human triosephosphate isomerase.
Human placental triosephosphate isomerase was isolated by an improved procedure and recovered with the highest specific activity ever reported. Employing this purification procedure, sufficient amounts of the enzyme were obtained for detailed primary structural studies. For sequences analysis, the enzyme was reduced and carboxymethylated and subjected to tryptic and chymotryptic digestions. The...
متن کاملRAPID COMMUNICATION Prenatal Diagnosis of Triosephosphate Isomerase Deficiency
First-trimester prenatal diagnosis was undertaken by chorionic villus DNA analysis in two unrelated families with the inherited glycolytic disorder triosephosphate isomerase (TPI) deficiency. The propositus in each family was shown to be homozygous for a missense mutation (GAG + GAC) at codon 104 of the TPI gene. In the first case the fetus was heterozygous for the codon 104 mutation and therefore
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ژورنال
عنوان ژورنال: Genetics
سال: 2006
ISSN: 1943-2631
DOI: 10.1534/genetics.106.063206