Literature DB >> 8884571

Disorders of gluconeogenesis.

G van den Berghe1.   

Abstract

Gluconeogenesis, or the formation of glucose from mainly lactate/ pyruvate, glycerol and alanine, plays an essential role in the maintenance of normoglycaemia during fasting. Inborn deficiencies are known of each of the four enzymes of the glycolytic-gluconeogenic pathway that ensure a unidirectional flux from pyruvate to glucose: pyruvate carboxylase, phosphoenolpyruvate carboxykinase, fructose-1,6-bisphosphatase, and glucose-6-phosphatase. In this paper, the clinical picture, pathophysiology, diagnostic tests, genetics, treatment and prognosis of the deficiencies of fructose-1,6-bisphosphatase and phosphoenolpyruvate carboxykinase are reviewed.

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Year:  1996        PMID： 8884571     DOI： 10.1007/bf01799108

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


  22 in total

1.  Mitochondrial phosphoenolpyruvate carboxykinase deficiency.

Authors:  J V Leonard; K Hyland; N Furukawa; P T Clayton
Journal:  Eur J Pediatr       Date:  1991-01       Impact factor: 3.183

2.  Mitochondrial phosphoenolpyruvate carboxykinase deficiency.

Authors:  P T Clayton; K Hyland; M Brand; J V Leonard
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

3.  Dangers of intravenous fructose.

Authors:  H F Woods; K G Alberti
Journal:  Lancet       Date:  1972-12-23       Impact factor: 79.321

4.  Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.

Authors:  A A Morris; S Deshphande; M P Ward-Platt; A E Whitfield; A Aynsley-Green; J V Leonard; M Pourfarzam; K Bartlett
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20.

Authors:  C N Ting; D L Burgess; J S Chamberlain; T P Keith; K Falls; M H Meisler
Journal:  Genomics       Date:  1993-06       Impact factor: 5.736

6.  Fructose 2,6-bisphosphate 2 years after its discovery.

Authors:  H G Hers; E Van Schaftingen
Journal:  Biochem J       Date:  1982-07-15       Impact factor: 3.857

7.  The unique role of the kidney in gluconeogenesis in the chicken. The significance of a cytosolic form of phosphoenolpyruvate carboxykinase.

Authors:  M Watford; Y Hod; Y B Chiao; M F Utter; R W Hanson
Journal:  J Biol Chem       Date:  1981-10-10       Impact factor: 5.157

8.  Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.

Authors:  M R el-Maghrabi; A J Lange; W Jiang; K Yamagata; M Stoffel; J Takeda; A A Fernald; M M Le Beau; G I Bell; L Baker
Journal:  Genomics       Date:  1995-06-10       Impact factor: 5.736

9.  Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

Authors:  A G Bodnar; J M Cooper; I J Holt; J V Leonard; A H Schapira
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

10.  cDNA sequences encoding human fructose 1,6-bisphosphatase from monocytes, liver and kidney: application of monocytes to molecular analysis of human fructose 1,6-bisphosphatase deficiency.

Authors:  Y Kikawa; M Inuzuka; T Takano; Y Shigematsu; A Nakai; Y Yamamoto; B Y Jin; J Koga; A Taketo; M Sudo
Journal:  Biochem Biophys Res Commun       Date:  1994-03-15       Impact factor: 3.575
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  11 in total

1.  Characterization of the human liver fructose-1,6-bisphosphatase gene promoter.

Authors:  B Herzog; M Waltner-Law; D K Scott; K Eschrich; D K Granner
Journal:  Biochem J       Date:  2000-10-15       Impact factor: 3.857

Review 2.  Starvation based differential chemotherapy: 
a novel approach for cancer treatment.

Authors:  Sidra Naveed; Muhammad Aslam; Aftab Ahmad
Journal:  Oman Med J       Date:  2014-11

3.  Neonatal hypoglycemia.

Authors:  Ved Bhushan Arya; Senthil Senniappan; Maria Guemes; Khalid Hussain
Journal:  Indian J Pediatr       Date:  2013-08-01       Impact factor: 1.967

4.  Novel mutations in patients with fructose-1,6-bisphosphatase deficiency.

Authors:  B Herzog; U Wendel; A A Morris; K Eschrich
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

5.  Identification of differentially expressed proteins in blood plasma of control and cigarette smoke-exposed mice by 2-D DIGE/MS.

Authors:  Arun K Tewari; Alexandra Popova-Butler; Mohamed A El-Mahdy; Jay L Zweier
Journal:  Proteomics       Date:  2011-04-18       Impact factor: 3.984

6.  Slc2a5 (Glut5) is essential for the absorption of fructose in the intestine and generation of fructose-induced hypertension.

Authors:  Sharon Barone; Stacey L Fussell; Anurag Kumar Singh; Fred Lucas; Jie Xu; Charles Kim; Xudong Wu; Yiling Yu; Hassane Amlal; Ursula Seidler; Jian Zuo; Manoocher Soleimani
Journal:  J Biol Chem       Date:  2008-12-17       Impact factor: 5.157

7.  Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

Authors:  Muhammad Faiyaz-Ul-Haque; Mohammed Al-Owain; Fouad Al-Dayel; Zuhair Al-Hassnan; Hamad Al-Zaidan; Zuhair Rahbeeni; Moeen Al-Sayed; Ameera Balobaid; Ahmad Cluntun; Mohamed Toulimat; Hala Abalkhail; Iskra Peltekova; Syed H E Zaidi
Journal:  Eur J Pediatr       Date:  2009-03-04       Impact factor: 3.183

Review 8.  Cerebral Gluconeogenesis and Diseases.

Authors:  James Yip; Xiaokun Geng; Jiamei Shen; Yuchuan Ding
Journal:  Front Pharmacol       Date:  2017-01-04       Impact factor: 5.810

9.  Enhancing glucose metabolism via gluconeogenesis is therapeutic in a zebrafish model of Dravet syndrome.

Authors:  Rajeswari Banerji; Christopher Huynh; Francisco Figueroa; Matthew T Dinday; Scott C Baraban; Manisha Patel
Journal:  Brain Commun       Date:  2021-01-25

10.  Quantitative Fluxomics of Circulating Metabolites.

Authors:  Sheng Hui; Alexis J Cowan; Xianfeng Zeng; Lifeng Yang; Tara TeSlaa; Xiaoxuan Li; Caroline Bartman; Zhaoyue Zhang; Cholsoon Jang; Lin Wang; Wenyun Lu; Jennifer Rojas; Joseph Baur; Joshua D Rabinowitz
Journal:  Cell Metab       Date:  2020-08-12       Impact factor: 31.373
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