aku, a Mutation of the Mouse Homologous to Human Alkaptonuria, Maps to Chromosome 16

Montagutelli, Xavier; Lalouette, Alexis; Coude, M.; Kamoun, P.; Forest, M; Guénet, Jean-Louis

doi:10.1006/geno.1994.1004

Cited by 70 publications

(51 citation statements)

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“…Here we describe the oral use of NTBC in a murine model of alkaptonuria (created with ethylnitrosourea by Montagutelli et al 1994) and demonstrate that NTBC clearly corrects the underlying metabolic defect. Our findings suggest that NTBC may therefore be the first effective pharmacotherapeutic agent for alkaptonuria.…”

Section: Introductionmentioning

confidence: 92%

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A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria

et al. 1999

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Alkaptonuria is a rare autosomal recessive disorder characterized by homogentisic aciduria, ochronosis, and arthritis. Although a deficiency of homogentisic acid 1,2-dioxygenase has recently been confirmed at the molecular level, no effective treatment regimen has yet been developed for this disorder. In the present study, 2(-2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), a potent inhibitor of p-hydroxyphenylpyruvate dioxygenase (which catalyzes the formation of homogentisic acid from phydroxyphenylpyruvic acid) was adopted as a possible therapeutic agent for alkaptonuria. NTBC dosedependently reduced the urinary output of homogentisic acid in a murine model of alkaptonuria that had been created with ethylnitrosourea. These findings suggest that NTBC may be the first potent pharmacotherapeutic agent for alkaptonuria.

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Section: Introductionmentioning

confidence: 92%

“…identified by the discoloration seen when a droplet of urine was deposited on filter paper impregnated with 0.5 M NaOH and dried prior to use (Montagutelli et al 1994). They were housed in metallic cages at 23°C under specific pathogen-free conditions, fed on CE-2 chow (Clea Japan, Tokyo), and used when they were 5-6 months of age.…”

Section: Introductionmentioning

confidence: 99%

A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria

et al. 1999

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“…This was hypothesized to be the result of the endogenous production of ascorbic acid in the digestive tract of the mouse, thus inhibiting the polymerization of HGA. 59 Other studies have developed murine models of AKU, also concluding that despite elevated levels of HGA, the mice did not Osteoporotic vertebral bodies ++ + +++, significant involvement; ++, some involvement; +, minimal involvement; ±, little or no involvement exhibit the typical phenotypic ochronosis observed in the human presentation. Hypotheses as to why this occurred, aside from the production of ascorbic acid in mice, have stated that the mice do not live long enough for ochronosis to occur and that urinary excretion is efficient so that tissues are not exposed to the high concentration of HGA as seen in humans.…”

Section: Models Of Akumentioning

confidence: 96%

Alkaptonuria

2013

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“…Markers on that chromosome were selected for study because of previously demonstrated homology of synteny with mouse chromosome 16. 29 Independently, Pollak et al 30 used homozygosity mapping to locate the alkaptonuric gene to 3 q 2 in a 16-cM region. Sucrase-isomaltase deficiency 31 and neonatal hyperparathyroidism 32 could be co-inherited with alkaptonuria.…”

Section: 23mentioning

confidence: 99%