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Literature DB >> 4369405

Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity.

Abstract

triangle up(1)-Pyrroline-5-carboxylic acid dehydrogenase activity was measured radioisotopically in normal and type 2 hyperprolinemia fibroblasts. The type 2 cells had no detectable activity over a range of reaction conditions whereas normal cells had easily measurable activity. This enzymatic defect accounts for the biochemical abnormalities in type 2 hyperprolinemia.

Entities: Disease

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Year: 1974 PMID： 4369405 DOI： 10.1126/science.185.4156.1053

Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728

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Cited

13 in total

1. Design, synthesis, and ex vivo evaluation of a selective inhibitor for retinaldehyde dehydrogenase enzymes.

Authors: Angelica R Harper; Anh T Le; Timothy Mather; Anthony Burgett; William Berry; Jody A Summers
Journal: Bioorg Med Chem Date: 2018-10-24 Impact factor: 3.641

2. Deletion of Drosophila Nopp140 induces subcellular ribosomopathies.

Authors: Fang He; Allison James; Himanshu Raje; Helya Ghaffari; Patrick DiMario
Journal: Chromosoma Date: 2014-11-11 Impact factor: 4.316

3. Regulation of proline oxidase activity by lactate.

Authors: E M Kowaloff; J M Phang; A S Granger; S J Downing
Journal: Proc Natl Acad Sci U S A Date: 1977-12 Impact factor: 11.205

4. Structural and Biochemical Characterization of Aldehyde Dehydrogenase 12, the Last Enzyme of Proline Catabolism in Plants.

Authors: David A Korasick; Radka Končitíková; Martina Kopečná; Eva Hájková; Armelle Vigouroux; Solange Moréra; Donald F Becker; Marek Šebela; John J Tanner; David Kopečný
Journal: J Mol Biol Date: 2018-12-21 Impact factor: 5.469

5. Changes in proline synthetic and degradative enzymes during matrix-induced cartilage and bone formation.

Authors: R J Smith; A H Reddi; J M Phang
Journal: Calcif Tissue Int Date: 1979-07-03 Impact factor: 4.333

6. Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes.

Authors: D Valle; S I Goodman; D A Applegarth; V E Shih; J M Phang
Journal: J Clin Invest Date: 1976-09 Impact factor: 14.808

Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity.

1. Design, synthesis, and ex vivo evaluation of a selective inhibitor for retinaldehyde dehydrogenase enzymes.

2. Deletion of Drosophila Nopp140 induces subcellular ribosomopathies.

3. Regulation of proline oxidase activity by lactate.

4. Structural and Biochemical Characterization of Aldehyde Dehydrogenase 12, the Last Enzyme of Proline Catabolism in Plants.

5. Changes in proline synthetic and degradative enzymes during matrix-induced cartilage and bone formation.

6. Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes.

7. Pyrroline-5-carboxylate synthase activity in mammalian cells.

8. Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline.

9. Biochemical and clinical features of hereditary hyperprolinemia.

Review 10. Proline Metabolism in Cell Regulation and Cancer Biology: Recent Advances and Hypotheses.