D‐Glycerate kinase deficiency as a cause of D‐glyceric aciduria

Schaftingen, Emile Van

doi:10.1016/0014-5793(89)80113-9

Cited by 40 publications

(35 citation statements)

References 17 publications

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“…These alternate promoters lead to the production of tissue-specific GK isoforms that differ in their N-terminal amino acids sequences (Magnuson, 1990). Second, hepatic GK, in addition to being regulated at the level of gene transcription, is regulated at a post-translational level by binding to the GK regulatory protein (GKRP) (Van Schaftingen, 1989).…”

Section: Transcriptionalmentioning

confidence: 99%

“…The interaction between GK and GKRP in liver affects both activity and subcellular location of the enzyme (Van Schaftingen, 1989;Vandercarmmen and Van Schaftingen, 1990;de la Iglesia et al, 1999;Shiota et ul., 1999). By reversibly binding to and inhibiting GK, GKRP is able to affect hepatic glucose usage and probably also the responsiveness and sensitivity of the hepatocytes to changes in glucose concentrations (de la Iglesia et al, 2000).…”

Section: Transcriptionalmentioning

confidence: 99%

See 1 more Smart Citation

Cell-specific Roles of Glucokinase in Glucose Homeostasis

Postic

Shiota²,

Magnuson³

2001

Recent Progress in Hormone Research

149

128

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Mutations in the glucokinase (GK) gene cause two different diseases of blood glucose regulation: maturity onset diabetes of the young, type 2 (MODY-2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). To gain further understanding of the pathophysiology of these disorders, we have used both transgenic and gene-targeting strategies to explore the relationship between GK gene expression in specific tissues and the blood glucose concentration.These studies, which have included the use of a CrelloxP gene-targeting strategy to perform both pancreatic g-cell-and hepatocyte-specific knockouts of GK, clearly demonstrate multiple, cell-specific roles for this hexokinase that, together, contribute to the maintainance of euglycemia.In the pancreatic g cell, GK functions as the glucose sensor, determining the threshold for insulin secretion, Mice lacking GK in the pancreatic l3 cell die within 3 days of birth of profound hyperglycemia.In the liver, GK facilitates hepatic glucose uptake during hyperglycemia and is essential for the appropriate regulation of a network of glucose-responsive genes. While mice lacking hepatic GK are viable, and are only mildly hyperglycemic when fasted, they also have impaired insulin secretion in response to hyperglycemia.The mechanisms that enable hepatic GK to affect +ell function are not yet understood. Thus, the hyperglycemia that occurs in MODY-2 is due to impaired GK function in both the liver and pancreatic g cell, although the defect in g-cell function is clearly more dominant, Whether defects in GK gene expression also impair glucose sensing by neurons in the brain or enteroendocrine cells in gut, two other sites known to express GK, remains to be determined. Moreover, whether the pathophysiology of PHHI also involves multitissue dysfunction remains to be explored.

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Section: Transcriptionalmentioning

confidence: 99%

Section: Transcriptionalmentioning

confidence: 99%

Cell-specific Roles of Glucokinase in Glucose Homeostasis

Postic

Shiota²,

Magnuson³

2001

Recent Progress in Hormone Research

149

128

View full text Add to dashboard Cite

show abstract

“…1 Only a handful of cases of D-glyceric aciduria have been reported, [47][48][49][50][51][52][53] one of which was in an Afghan hound. 53 The underlying defect is unclear, but deficiencies of D-glycerate dehydrogenase, 54 triokinase, 50 or D-glycerate kinase 52,55 have been proposed. Clinical features in these cases have included severe neurological impairment and persistent metabolic acidosis.…”

Section: Inborn Errors Of Metabolismmentioning

confidence: 99%

Pitfalls in the diagnosis of glycine encephalopathy (non‐ketotic hyperglycinemia)

Korman

Gutman

2002

Develop Med Child Neuro

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“…Since then, primary structures of many nonplant glycerate kinases (GKs) were determined and their metabolic functions investigated. Malfunction of the human GK, for example, leads to the hereditary disease D-glyceric aciduria (Van Schaftingen, 1989). In bacteria and archaea, GK participates in several processes, including the metabolization of one-carbon compounds, glycolate, and glyoxylate via the Ser cycle and the D-glycerate pathway, respectively (Doughty et al, 1966;Ornston and Ornston, 1969;Hubbard et al, 1998;Cusa et al, 1999;Verhees et al, 2003).…”

Section: Introductionmentioning

confidence: 99%