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5 results on '"Aimi J"'

1. A Mutation in Adenylosuccinate Lyase Associated With Mental-retardation and Autistic Features

Author

UCL - MD/BICL - Département de biochimie et de biologie cellulaire, Stone, RL., Aimi, J., Barshop, BA., Jaeken, J., Van den Berghe, Georges, Zalkin, H., Dixon, JE., UCL - MD/BICL - Département de biochimie et de biologie cellulaire, Stone, RL., Aimi, J., Barshop, BA., Jaeken, J., Van den Berghe, Georges, Zalkin, H., and Dixon, JE.

Abstract

We have examined the molecular basis of three cases of severe mental retardation with autistic features in one family. A point mutation in a purine nucleotide biosynthetic enzyme, adenylosuccinate lyase (ASL), segregates with the disorder. The affected children are homozygous for the point mutation while the parents and all four unaffected children are heterozygous. The point mutation is absent in control subjects. The point mutation results in a Ser413Pro substitution which leads to structural instability of the recombinant mutant enzyme, and this instability lowers ASL levels in lymphocytes. These observations suggest that the instability of ASL underlies the severe developmental disorder in the affected children, and that mutations in the ASL gene may result in other cases of mental retardation and autistic features.

Published
1992

4. Enantiomeric Natural Products: Occurrence and Biogenesis

Author

Life Sciences Institute and Departments of Medicinal Chemistry, Microbiology & Immunology, and Chemistry, University of Michigan, Ann Arbor, MI 48109 (USA), Department of Chemistry, Colorado State University, Fort Collins, CO 80523 (USA), The University of Colorado Cancer Center, Aurora, CO 80045 (USA) http://rwindigo1.chm.colostate.edu/, Department of Ecology and Evolution, University of Chicago, 1101 East 57th Street, Chicago, IL 60637 (USA), Finefield, Jennifer M., Sherman, David H., Kreitman, Martin, Williams, Robert M., Life Sciences Institute and Departments of Medicinal Chemistry, Microbiology & Immunology, and Chemistry, University of Michigan, Ann Arbor, MI 48109 (USA), Department of Chemistry, Colorado State University, Fort Collins, CO 80523 (USA), The University of Colorado Cancer Center, Aurora, CO 80045 (USA) http://rwindigo1.chm.colostate.edu/, Department of Ecology and Evolution, University of Chicago, 1101 East 57th Street, Chicago, IL 60637 (USA), Finefield, Jennifer M., Sherman, David H., Kreitman, Martin, and Williams, Robert M.

Abstract

In nature, chiral natural products are usually produced in optically pure form???however, occasionally both enantiomers are formed. These enantiomeric natural products can arise from a single species or from different genera and/or species. Extensive research has been carried out over the years in an attempt to understand the biogenesis of naturally occurring enantiomers; however, many fascinating puzzles and stereochemical anomalies still remain. Two sides to the story : The formation of enantiomerically opposite natural products by nature is known, although rare (see examples). To date, many puzzles and stereochemical anomalies remain regarding the biogenesis of these unique natural products, despite the substantial body of research that has been carried out over the years in an attempt to understand the biogenesis of enantiomeric metabolites.

Published
2012

5. Enantiomere Naturstoffe: Vorkommen und Biogenese

Author

Life Sciences Institute and Departments of Medicinal Chemistry, Microbiology & Immunology, and Chemistry, University of Michigan, Ann Arbor, MI 48109 (USA), Department of Chemistry, Colorado State University, Fort Collins, CO 80523 (USA), The University of Colorado Cancer Center, Aurora, CO 80045 (USA) http://rwindigo1.chm.colostate.edu/, Department of Ecology and Evolution, University of Chicago, 1101 East 57th Street, Chicago, IL 60637 (USA), Finefield, Jennifer M., Sherman, David H., Kreitman, Martin, Williams, Robert M., Life Sciences Institute and Departments of Medicinal Chemistry, Microbiology & Immunology, and Chemistry, University of Michigan, Ann Arbor, MI 48109 (USA), Department of Chemistry, Colorado State University, Fort Collins, CO 80523 (USA), The University of Colorado Cancer Center, Aurora, CO 80045 (USA) http://rwindigo1.chm.colostate.edu/, Department of Ecology and Evolution, University of Chicago, 1101 East 57th Street, Chicago, IL 60637 (USA), Finefield, Jennifer M., Sherman, David H., Kreitman, Martin, and Williams, Robert M.

Abstract

In der Natur werden chirale Substanzen meist in enantiomerenreiner Form synthetisiert ??? manchmal entstehen aber auch beide Enantiomere. Solche enantiomeren Naturstoffe k??nnen von einer Art oder von verschiedenen Gattungen und/oder Arten gebildet werden. Intensive Forschungen wurden ??ber viele Jahre durchgef??hrt, um die Biogenese nat??rlich vorkommender Enantiomere zu verstehen, doch viele faszinierende R??tsel und stereochemische Anomalien sind nach wie vor ungel??st. Bild und Spiegelbild in der Natur: Die Bildung von nat??rlich vorkommenden Enantiomerenpaaren ist bekannt, wenn auch selten (siehe Beispiel). Bis heute sind noch viele R??tsel und stereochemische Anomalien bei der Biogenese dieser einmaligen Naturstoffe ungel??st, auch wenn im Laufe der Jahre viel Arbeit investiert worden ist, um die Entstehung enantiomerer Metaboliten zu verstehen.

Published
2012

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