The biological foundation of the genetic association of TOMM40 with late-onset Alzheimer's disease

A variable-length poly-T variant in intron 6 of the TOMM40 gene, rs10524523, is associated with risk and age-of-onset of sporadic (late-onset) Alzheimer's disease. In Caucasians, the three predominant alleles at this locus are Short (S), Long (L) or Very long (VL). On an APOE ε3/3 background, t...

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Veröffentlicht in:	Biochimica et biophysica acta 2017-11, Vol.1863 (11), p.2973-2986
Hauptverfasser:	Zeitlow, Kahli, Charlambous, Lefko, Ng, Isaac, Gagrani, Sonal, Mihovilovic, Mirta, Luo, Shuhong, Rock, Daniel L., Saunders, Ann, Roses, Allen D., Gottschalk, W. Kirby
Format:	Artikel
Sprache:	eng
Schlagworte:	Alzheimer Disease - genetics Alzheimer Disease - metabolism Alzheimer Disease - pathology Alzheimer's Apolipoproteins E - genetics Apolipoproteins E - metabolism Electron Transport Complex I - genetics Electron Transport Complex I - metabolism Energetics Female Gene Expression Regulation Genetic Loci HeLa Cells HSP70 Heat-Shock Proteins - genetics HSP70 Heat-Shock Proteins - metabolism Humans Ketoglutarate Dehydrogenase Complex - genetics Ketoglutarate Dehydrogenase Complex - metabolism Membrane Potential, Mitochondrial - genetics Membrane Transport Proteins - biosynthesis Membrane Transport Proteins - genetics Mitochondria Mitochondria - genetics Mitochondria - metabolism Mitochondria - pathology Mitochondrial Proteins - genetics Mitochondrial Proteins - metabolism Neurodegeneration Receptors, Cell Surface - biosynthesis Receptors, Cell Surface - genetics TOM TOMM40
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