Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glutamatdehydrogenase 1

Das Gen GLUD1 kodiert ein mitochondrales Enzym, welche eine besondere Bedeutung für den Nitratstoffwechsel besitzt. Mutationen lösen die autosomal dominante Störung einer Hyperinsulinämischen Hypoglykämie

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hyperinsulinämische Hypoglycämie 6
GLUD1

Referenzen:

1.

Miki Y et al. (2000) Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.

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2.

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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3.

Smith TJ et al. (2001) Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation.

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4.

Plaitakis A et al. (2001) Regulation of human glutamate dehydrogenases: implications for glutamate, ammonia and energy metabolism in brain.

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5.

Kaczirek K et al. (2004) Nesidioblastosis: an old term and a new understanding.

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6.

de Lonlay P et al. (2005) Dominantly inherited hyperinsulinaemic hypoglycaemia.

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7.

Hussain K et al. (2007) Insights in congenital hyperinsulinism.

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8.

Kapoor RR et al. (2009) Advances in the diagnosis and management of hyperinsulinemic hypoglycemia.

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9.

Tzimagiorgis G et al. (1991) Chromosomal mapping of glutamate dehydrogenase gene sequences to mouse chromosomes 7 and 14.

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10.

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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11.

Jung KY et al. (1989) Assignment of the GDH loci to human chromosomes 10q23 and Xq24 by in situ hybridization.

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12.

Hanauer A et al. (1987) Presence of a TaqI polymorphism in the human glutamate dehydrogenase (GLUD) gene on chromosome 10.

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13.

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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14.

Nakatani Y et al. (1988) Complete nucleotide sequence of human glutamate dehydrogenase cDNA.

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15.

Colon AD et al. (1986) Purification and characterization of a soluble and a particulate glutamate dehydrogenase from rat brain.

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16.

Sorbi S et al. (1986) Abnormal platelet glutamate dehydrogenase activity and activation in dominant and nondominant olivopontocerebellar atrophy.

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17.

Plaitakis A et al. (1982) Abnormal glutamate metabolism in an adult-onset degenerative neurological disorder.

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18.

Duvoisin RC et al. (1983) Glutamate dehydrogenase deficiency in patients with olivopontocerebellar atrophy.

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19.

Plaitakis A et al. (1984) Neurological disorders associated with deficiency of glutamate dehydrogenase.

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20.

Yamaguchi T et al. (1982) Glutamate dehydrogenase deficiency in spinocerebellar degenerations.

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21.

Barbeau A et al. (1980) Leucocyte glutamate dehydrogenase in various hereditary ataxias.

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22.

Plaitakis A et al. (1980) Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome.

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23.

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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24.

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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25.

Michaelidis TM et al. (1993) The human glutamate dehydrogenase gene family: gene organization and structural characterization.

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26.

Nelson RL et al. (1977) Electrophoresis of human l-glutamate dehydrogenase: tissue distribution and preliminary population survey.

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27.

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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28.

Stanley CA et al. (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.

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29.

Glaser B et al. (1998) Clinical and molecular heterogeneity of familial hyperinsulinism.

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