Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

PPARG-Kofaktor 1-beta

Das vom PPARGC1B-Gen kodierte Protein ist in die Funktion des Transkriptionsfaktors PPARG eingebunden. Mutationen können in autosomal dominanter Form zu Adipositas führen.

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:

Neigung zu Fettleibigkeit
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1

Referenzen:

1.

Lin J et. al. (2005) Hyperlipidemic effects of dietary saturated fats mediated through PGC-1beta coactivation of SREBP.

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2.

Lin J et. al. (2002) Peroxisome proliferator-activated receptor gamma coactivator 1beta (PGC-1beta ), a novel PGC-1-related transcription coactivator associated with host cell factor.

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3.

Kressler D et. al. (2002) The PGC-1-related protein PERC is a selective coactivator of estrogen receptor alpha.

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4.

Hentschke M et. al. (2002) PGC-1 and PERC, coactivators of the estrogen receptor-related receptor gamma.

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5.

Kamei Y et. al. (2003) PPARgamma coactivator 1beta/ERR ligand 1 is an ERR protein ligand, whose expression induces a high-energy expenditure and antagonizes obesity.

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6.

Ling C et. al. (2004) Multiple environmental and genetic factors influence skeletal muscle PGC-1alpha and PGC-1beta gene expression in twins.

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7.

Andersen G et. al. (2005) Evidence of an association between genetic variation of the coactivator PGC-1beta and obesity.

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8.

Lai L et. al. (2008) Transcriptional coactivators PGC-1alpha and PGC-lbeta control overlapping programs required for perinatal maturation of the heart.

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9.

Ishii KA et. al. (2009) Coordination of PGC-1beta and iron uptake in mitochondrial biogenesis and osteoclast activation.

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10.

Srivastava S et. al. (2009) PGC-1alpha/beta induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disorders.

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11.

Sahin E et. al. (2011) Telomere dysfunction induces metabolic and mitochondrial compromise.

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