Literature DB >> 635581

Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.

J J O'Donnell, R P Sandman, S R Martin.   

Abstract

Cultured fibroblasts from a patient with gyrate atrophy of the retina do not convert L-ornithine, uniformly labeled with carbon-14, to proline. This metabolic block is caused by deficient L-ornithine:2-oxoacid aminotransferase activity in the patient. Her heterozygote father has intermediate activity of this enzyme.

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Year:  1978        PMID： 635581     DOI： 10.1126/science.635581

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


  19 in total

1.  Human retinal pigment epithelial cells prefer proline as a nutrient and transport metabolic intermediates to the retinal side.

Authors:  Jennifer R Chao; Kaitlen Knight; Abbi L Engel; Connor Jankowski; Yekai Wang; Megan A Manson; Haiwei Gu; Danijel Djukovic; Daniel Raftery; James B Hurley; Jianhai Du
Journal:  J Biol Chem       Date:  2017-06-14       Impact factor: 5.157

2.  Progression of gyrate atrophy measured with ultra-wide-field imaging.

Authors:  Guillermo Salcedo-Villanueva; Miguel Paciuc-Beja; Cristina Villanueva-Mendoza; Mariana Harasawa; Jesse M Smith; Raul Velez-Montoya; Jeffrey L Olson; Scott C Oliver; Naresh Mandava; Hugo Quiroz-Mercado
Journal:  Int Ophthalmol       Date:  2015-05-26       Impact factor: 2.031

3.  Proline mediates metabolic communication between retinal pigment epithelial cells and the retina.

Authors:  Michelle Yam; Abbi L Engel; Yekai Wang; Siyan Zhu; Allison Hauer; Rui Zhang; Daniel Lohner; Jiancheng Huang; Marlee Dinterman; Chen Zhao; Jennifer R Chao; Jianhai Du
Journal:  J Biol Chem       Date:  2019-05-19       Impact factor: 5.157

Review 4.  Ornithine aminotransferase versus GABA aminotransferase: implications for the design of new anticancer drugs.

Authors:  Hyunbeom Lee; Jose I Juncosa; Richard B Silverman
Journal:  Med Res Rev       Date:  2014-08-22       Impact factor: 12.944

5.  Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

Authors:  A I McClatchey; D L Kaufman; E L Berson; A J Tobin; V E Shih; J F Gusella; V Ramesh
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

6.  Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6.

Authors:  S Hayasaka; T Saito; H Nakajima; Y Takaku; T Shiono; K Mizuno; K Ohmura; K Tada
Journal:  Br J Ophthalmol       Date:  1981-07       Impact factor: 4.638

7.  Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.

Authors:  I Sipilä; O Simell; J J O'Donnell
Journal:  J Clin Invest       Date:  1981-06       Impact factor: 14.808

Review 8.  Endogenous ornithine in search for CNS functions and therapeutic applications.

Authors:  N Seiler; G Daune-Anglard
Journal:  Metab Brain Dis       Date:  1993-09       Impact factor: 3.584

9.  Biochemical and therapeutical studies in a case of atrophia gyrata.

Authors:  W Behrens-Baumann; U König; K Schröder; I Hansmann; U Langenbeck
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

10.  The plasma flux and oxidation rate of ornithine adaptively decline with restricted arginine intake.

Authors:  L Castillo; M Sánchez; T E Chapman; A Ajami; J F Burke; V R Young
Journal:  Proc Natl Acad Sci U S A       Date:  1994-07-05       Impact factor: 11.205
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