Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales Entkopplungsprotein 3

Das UCP3-Gen kodiert eine mitochondriales Transportprotein, welches für die Energiezufuhr und Wärmeproduktion der Zelle steuert. Mutationen führen zu autosomal dominanter schwerer Adipositas mit Diabetes mellitus Typ 2.

Diagnostik:

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

Krankheiten:

Schwere Fettsucht mit Typ 2 Diabetes
UCP3

Referenzen:

1.

Echtay KS et. al. (2002) Superoxide activates mitochondrial uncoupling proteins.

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2.

Fleury C et. al. (1997) Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia.

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3.

Boss O et. al. (1997) Uncoupling protein-3: a new member of the mitochondrial carrier family with tissue-specific expression.

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4.

Vidal-Puig A et. al. (1997) UCP3: an uncoupling protein homologue expressed preferentially and abundantly in skeletal muscle and brown adipose tissue.

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5.

Bouchard C et. al. (1997) Linkage between markers in the vicinity of the uncoupling protein 2 gene and resting metabolic rate in humans.

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6.

Solanes G et. al. (1997) The human uncoupling protein-3 gene. Genomic structure, chromosomal localization, and genetic basis for short and long form transcripts.

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7.

Millet L et. al. (1997) Increased uncoupling protein-2 and -3 mRNA expression during fasting in obese and lean humans.

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8.

Boss O et. al. (1998) Genomic structure of uncoupling protein-3 (UCP3) and its assignment to chromosome 11q13.

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9.

Liu Q et. al. (1998) Uncoupling protein-3: a muscle-specific gene upregulated by leptin in ob/ob mice.

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10.

Walder K et. al. (1998) Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism/obesity in Pima indians.

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11.

Argyropoulos G et. al. (1998) Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes.

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12.

Pecqueur C et. al. (1999) Functional organization of the human uncoupling protein-2 gene, and juxtaposition to the uncoupling protein-3 gene.

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13.

Hinz W et. al. (1999) Recombinant human uncoupling protein-3 increases thermogenesis in yeast cells.

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14.

Brown AM et. al. (1999) Endogenous mutations in human uncoupling protein 3 alter its functional properties.

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15.

Gong DW et. al. (2000) Lack of obesity and normal response to fasting and thyroid hormone in mice lacking uncoupling protein-3.

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16.

Vidal-Puig AJ et. al. (2000) Energy metabolism in uncoupling protein 3 gene knockout mice.

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17.

Clapham JC et. al. (2000) Mice overexpressing human uncoupling protein-3 in skeletal muscle are hyperphagic and lean.

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18.

Dalgaard LT et. al. (2001) A prevalent polymorphism in the promoter of the UCP3 gene and its relationship to body mass index and long term body weight change in the Danish population.

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19.

Hesselink MK et. al. (2003) Increased uncoupling protein 3 content does not affect mitochondrial function in human skeletal muscle in vivo.

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20.

Mills EM et. al. (2003) Pharmacology: uncoupling the agony from ecstasy.

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21.

Russell AP et. al. (2003) Decreased fatty acid beta-oxidation in riboflavin-responsive, multiple acylcoenzyme A dehydrogenase-deficient patients is associated with an increase in uncoupling protein-3.

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22.

Choi CS et. al. (2007) Overexpression of uncoupling protein 3 in skeletal muscle protects against fat-induced insulin resistance.

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