Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels

Lipid- und der Kohlenhydratstoffwechsel sind durch eine Vielzahl gemeinsamer Regulatoren miteinander verwoben, so das Mutationen der hier aufgeführten Gene in beiden Stoffwechselsystemen pathophysiologische Auswirkungen haben können.

Gliederung

Erbliche Fettstoffwechselerkrankungen
Dyslipidämie
Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
GCKR
GPD1
MLXIPL
TRIB1
Hepatischer CPT-Mangel Typ 1A
Meerblaue Histiozytenerkrankung
Statin-Intoleranz
Störung der Körperfettverteilung
Störungen der mRNA-Editiertfunktion
Tangier Erkrankung
Triglyceridspeicherkrankheit
Vermindete Cholesterinsenkung durch Statine

Referenzen:

1.

Suhre K et. al. (2011) Human metabolic individuality in biomedical and pharmaceutical research.

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2.

Vaxillaire M et. al. (1994) Search for a third susceptibility gene for maturity-onset diabetes of the young. Studies with eleven candidate genes.

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3.

Warner JP et. al. (1995) Human glucokinase regulatory protein (GCKR): cDNA and genomic cloning, complete primary structure, and chromosomal localization.

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4.

Hayward BE et. al. (1996) Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23.

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5.

Hayward BE et. al. (1998) Organization of the human glucokinase regulator gene GCKR.

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6.

Farrelly D et. al. (1999) Mice mutant for glucokinase regulatory protein exhibit decreased liver glucokinase: a sequestration mechanism in metabolic regulation.

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7.

Grimsby J et. al. (2000) Characterization of glucokinase regulatory protein-deficient mice.

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8.

Vaxillaire M et. al. (2008) The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population.

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9.

Orho-Melander M et. al. (2008) Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations.

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10.

Beer NL et. al. (2009) The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.

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11.

Dupuis J et. al. (2010) New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

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12.

Lloyd DJ et. al. (2013) Antidiabetic effects of glucokinase regulatory protein small-molecule disruptors.

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