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Literature DB >> 10896297

Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.

J Zeman¹, J Krijt, L Stratilová, H Hansíková, L Wenchich, S Kmoch, P Chrastina, J Houstek.

Abstract

Entities: Chemical Disease Mutation

Mesh：

Substances：

Year: 2000 PMID： 10896297 DOI： 10.1023/a:1005639516342

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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11 in total

1. Variability of clinical presentation in fumarate hydratase deficiency.

Authors: O N Elpeleg; N Amir; E Christensen
Journal: J Pediatr Date: 1992-11 Impact factor: 4.406

2. Restructuring the active site of fumarase for the fumarate to malate reaction.

Authors: I A Rose
Journal: Biochemistry Date: 1997-10-07 Impact factor: 3.162

Review 3. Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.

Authors: P Rustin; T Bourgeron; B Parfait; D Chretien; A Munnich; A Rötig
Journal: Biochim Biophys Acta Date: 1997-08-22

Review 4. Organizational aspects of the citric acid cycle.

Authors: P A Srere; B Sumegi; A D Sherry
Journal: Biochem Soc Symp Date: 1987

5. The kinetics of adenylosuccinate lyase.

Authors: W A Bridger; L H Cohen
Journal: J Biol Chem Date: 1968-02-10 Impact factor: 5.157

6. Identification and determination of succinyladenosine in human cerebrospinal fluid.

Authors: J Krijt; S Kmoch; H Hartmannová; V Havlícek; I Sebesta
Journal: J Chromatogr B Biomed Sci Appl Date: 1999-04-16

7. Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Authors: T Bourgeron; D Chretien; J Poggi-Bach; S Doonan; D Rabier; P Letouzé; A Munnich; A Rötig; P Landrieu; P Rustin
Journal: J Clin Invest Date: 1994-06 Impact factor: 14.808

8. Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase.

Authors: R L Stone; H Zalkin; J E Dixon
Journal: J Biol Chem Date: 1993-09-15 Impact factor: 5.157

9. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

Authors: J Jaeken; S K Wadman; M Duran; F J van Sprang; F A Beemer; R A Holl; P M Theunissen; P de Cock; F van den Bergh; M F Vincent
Journal: Eur J Pediatr Date: 1988-11 Impact factor: 3.183

10. Molecular analysis and prenatal diagnosis of human fumarase deficiency.

Authors: E M Coughlin; E Christensen; P L Kunz; K S Krishnamoorthy; V Walker; N R Dennis; R A Chalmers; O N Elpeleg; D Whelan; R J Pollitt; V Ramesh; R Mandell; V E Shih
Journal: Mol Genet Metab Date: 1998-04 Impact factor: 4.797

6 in total

Review 1. Fumaric aciduria: an overview and the first Brazilian case report.

Authors: Gabriella Allegri; Marcia J Fernandes; Fernanda B Scalco; Patricia Correia; Ruth E Simoni; Juan C Llerena; Maria L Costa de Oliveira
Journal: J Inherit Metab Dis Date: 2010-06-15 Impact factor: 4.982

2. Intracellular succinylation of 8-chloroadenosine and its effect on fumarate levels.

Authors: Jennifer B Dennison; Mary L Ayres; Kumar Kaluarachchi; William Plunkett; Varsha Gandhi
Journal: J Biol Chem Date: 2010-01-11 Impact factor: 5.157

3. Metabolomic network analysis of estrogen-stimulated MCF-7 cells: a comparison of overrepresentation analysis, quantitative enrichment analysis and pathway analysis versus metabolite network analysis.

Authors: Alexandra Maertens; Mounir Bouhifd; Liang Zhao; Shelly Odwin-DaCosta; Andre Kleensang; James D Yager; Thomas Hartung
Journal: Arch Toxicol Date: 2016-04-02 Impact factor: 5.153