2000
DOI: 10.1093/oxfordjournals.hmg.a018927
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Structural and functional analysis of mutations in alkaptonuria

Abstract: Alkaptonuria (AKU), the prototypic inborn error of metabolism, was the first human disease to be interpreted as a Mendelian trait by Garrod and Bateson at the beginning of last century. AKU results from impaired function of homogentisate dioxygenase (HGO), an enzyme required for the catabolism of phenylalanine and tyrosine. With the novel 7 AKU and 22 fungal mutations reported here, a total of 84 mutations impairing this enzyme have been found in the HGO gene from humans and model organisms. Forty-three of the… Show more

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Cited by 80 publications
(66 citation statements)
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“…36 So far, observed absence of a clear correlation between genotype and phenotype may be explained by the variability in residual HGD enzymatic activities caused by different mutations. 19 Owing to the complex hexameric structure of the HGD enzyme, genotype-phenotype correlation studies are even more complicated when in the patients two different mutations are to be considered.…”
Section: Discussionmentioning
confidence: 99%
“…36 So far, observed absence of a clear correlation between genotype and phenotype may be explained by the variability in residual HGD enzymatic activities caused by different mutations. 19 Owing to the complex hexameric structure of the HGD enzyme, genotype-phenotype correlation studies are even more complicated when in the patients two different mutations are to be considered.…”
Section: Discussionmentioning
confidence: 99%
“…17,18 A total of 84 mutations impairing this enzyme have been found in the HGO gene from humans and model organisms, and 43 of these mutations result in single amino acid substitutions. 19 More than 40 different mutations have been identified in approximately 100 unrelated patients with alkaptonuria from many different countries. 20 The most widespread HGO mutations are probably old mutations that have spread throughout Europe and Asia during human migration.…”
Section: Discussionmentioning
confidence: 99%
“…Forty causative mutations (representing a remarkably high allelic heterogeneity for a rare disease) have been identified in patients, mostly thanks to the efforts of S. Rodriguez de Có rdoba and colleagues (see a complete reference list in Rodriguez et al (2000)). Of these, 67% represent missense mutations.…”
Section: From Molds To Humansmentioning
confidence: 99%