Glutamate dehydrogenase 1
The gene encodes a mitochondrial enzyme that plays an important role in nitrate metabolism. Loss-of-function mutations cause hyperinsulinemic hypoglycemia that is inherited in an autosomal dominant pattern.
Genetests:
Related Diseases:
References:
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Miki Y et al. (2000) Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.
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2. |
Nelson RL et al. (1977) Electrophoresis of human l-glutamate dehydrogenase: tissue distribution and preliminary population survey.
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3. |
Michaelidis TM et al. (1993) The human glutamate dehydrogenase gene family: gene organization and structural characterization.
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4. |
Tzimagiorgis G et al. (1993) Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2.
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5. |
Deloukas P et al. (1993) Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely physically linked.
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6. |
Plaitakis A et al. (1980) Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome.
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7. |
Barbeau A et al. (1980) Leucocyte glutamate dehydrogenase in various hereditary ataxias.
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8. |
Yamaguchi T et al. (1982) Glutamate dehydrogenase deficiency in spinocerebellar degenerations.
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9. |
Plaitakis A et al. (1984) Neurological disorders associated with deficiency of glutamate dehydrogenase.
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10. |
Duvoisin RC et al. (1983) Glutamate dehydrogenase deficiency in patients with olivopontocerebellar atrophy.
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11. |
Plaitakis A et al. (1982) Abnormal glutamate metabolism in an adult-onset degenerative neurological disorder.
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12. |
Sorbi S et al. (1986) Abnormal platelet glutamate dehydrogenase activity and activation in dominant and nondominant olivopontocerebellar atrophy.
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13. |
Colon AD et al. (1986) Purification and characterization of a soluble and a particulate glutamate dehydrogenase from rat brain.
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14. |
Nakatani Y et al. (1988) Complete nucleotide sequence of human glutamate dehydrogenase cDNA.
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15. |
Mavrothalassitis G et al. (1988) Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family.
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16. |
Jung KY et al. (1989) Assignment of the GDH loci to human chromosomes 10q23 and Xq24 by in situ hybridization.
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17. |
Thornton PS et al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.
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18. |
Santer R et al. (2001) Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.
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19. |
Stanley CA et al. (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
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20. |
Glaser B et al. (1998) Clinical and molecular heterogeneity of familial hyperinsulinism.
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21. |
Kapoor RR et al. (2009) Advances in the diagnosis and management of hyperinsulinemic hypoglycemia.
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22. |
Smith TJ et al. (2001) Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation.
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23. |
Plaitakis A et al. (2001) Regulation of human glutamate dehydrogenases: implications for glutamate, ammonia and energy metabolism in brain.
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24. |
Kaczirek K et al. (2004) Nesidioblastosis: an old term and a new understanding.
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25. |
de Lonlay P et al. (2005) Dominantly inherited hyperinsulinaemic hypoglycaemia.
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26. |
None (2007) Insights in congenital hyperinsulinism.
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27. |
Tzimagiorgis G et al. (1991) Chromosomal mapping of glutamate dehydrogenase gene sequences to mouse chromosomes 7 and 14.
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28. |
Shaughnessy J et al. (1989) A restriction fragment length polymorphism at murine Glud locus co-segregates with Rib-1, Es-10, and Tcra on chromosome 14.
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29. |
Hanauer A et al. (1987) Presence of a TaqI polymorphism in the human glutamate dehydrogenase (GLUD) gene on chromosome 10.
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30. |
NCBI article
NCBI 2746
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31. |
OMIM.ORG article
Omim 138130
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32. |
Orphanet article
Orphanet ID 122188
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33. |
Wikipedia article
Wikipedia EN (Glutamate_dehydrogenase_1)
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Update: Aug. 14, 2020