Literature DB >> 270753

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

D Valle, M I Kaiser-Kupfer, L A Del Valle.   

Abstract

Gyrate atrophy of the choroid and retina is an inherited form of chorioretinal degeneration associated with hyperornithinemia. We measured the activity of ornithine aminotransferase (L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) in phytohemagglutinin-stimulated lymphocytes of a patient with gyrate atrophy and her daughter. The patient's cells had no detectable ornithine aminotransferase activity, and the activity in the heterozygote's cells was 44% of normal values. Measurements of [3H]thymidine incorporation and other transformation-affected enzymes verified that the patient's cells were transformed. These results demonstrate an enzyme deficiency in gyrate atrophy.

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Year:  1977        PMID： 270753      PMCID： PMC432120          DOI： 10.1073/pnas.74.11.5159

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  18 in total

1.  PURIFICATION AND PROPERTIES OF RAT LIVER ORNITHINE DELTA-TRANSAMINASE.

Authors:  H J STRECKER
Journal:  J Biol Chem       Date:  1965-03       Impact factor: 5.157

2.  STUDIES ON ORNITHINE KETOACID TRANSAMINASE. II. ROLE IN METABOLIC PATHWAY.

Authors:  N KATUNUMA; M OKADA; T MATSUZAWA; Y OTSUKA
Journal:  J Biochem       Date:  1965-03       Impact factor: 3.387

3.  A radioisotopic assay for proline oxidase activity.

Authors:  J M Phang; S J Downing; D L Valle; E M Kowaloff
Journal:  J Lab Clin Med       Date:  1975-02

4.  Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.

Authors:  K Takki; O Simell
Journal:  Br J Ophthalmol       Date:  1974-11       Impact factor: 4.638

5.  Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

Authors:  O Simell; K Takki
Journal:  Lancet       Date:  1973-05-12       Impact factor: 79.321

6.  A radioisotopic assay for delta1-pyrroline-5-carboxylate reductase.

Authors:  J M Phang; S J Downing; D Valle
Journal:  Anal Biochem       Date:  1973-09       Impact factor: 3.365

7.  [Ornithinemia, additional disorder of amino acid metabolism with brain damage].

Authors:  H Bickel; D Feist; H Müller; G Quadbeck
Journal:  Dtsch Med Wochenschr       Date:  1968-11-22       Impact factor: 0.628

8.  Plasma amino-acids in hereditary retinal disease. Ornithine, lysine, and taurine.

Authors:  E L Berson; S Y Schmidt; A R Rabin
Journal:  Br J Ophthalmol       Date:  1976-02       Impact factor: 4.638

9.  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

10.  Stimulation of DNA synthesis, cell multiplication, and ornithine decarboxylase in 3T3 cells by multiplication stimulating activity (MSA).

Authors:  S P Nissley; J Passamani; P Short
Journal:  J Cell Physiol       Date:  1976-11       Impact factor: 6.384
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  34 in total

1.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

2.  The MRL +/+ mouse: a new model of tubular aggregates which are gender- and age-related.

Authors:  R W Kuncl; A Pestronk; J Lane; E Alexander
Journal:  Acta Neuropathol       Date:  1989       Impact factor: 17.088

3.  Effect of pH on spectral characteristics of P5C-ninhydrin derivative: Application in the assay of ornithine amino transferase activity from tissue lysate.

Authors:  H Ravikumar; K S Devaraju; K Taranath Shetty
Journal:  Indian J Clin Biochem       Date:  2008-06-11

4.  A sensitive assay for ornithine amino transferase in rat brain mitochondria by ninhydrin method.

Authors:  H Ravi Kumar; S Ananda; K S Devaraju; B M Prakash; S Sampath Kumar; S V Suresh Babu; N Ramachandraswamy; H P Puttaraju
Journal:  Indian J Clin Biochem       Date:  2009-09-16

5.  Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.

Authors:  Y Hotta; N G Kennaway; R G Weleber; G Inana
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

6.  Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.

Authors:  Ying Peng; Sandra K Cooper; Yi Li; Jay M Mei; Shuwei Qiu; Gregory L Borchert; Steven P Donald; Hsiang-Fu Kung; James M Phang
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-04       Impact factor: 4.799

7.  Ornithine delta-aminotransferase activity in retina and other tissues.

Authors:  G N Rao; E Cotlier
Journal:  Neurochem Res       Date:  1984-04       Impact factor: 3.996

Review 8.  Creatine metabolism and the consequences of creatine depletion in muscle.

Authors:  M Wyss; T Wallimann
Journal:  Mol Cell Biochem       Date:  1994 Apr-May       Impact factor: 3.396

9.  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

10.  Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

Authors:  V Ramesh; A I McClatchey; N Ramesh; L A Benoit; E L Berson; V E Shih; J F Gusella
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205
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