sequencing of IFT57 in 13 OFDS subjects and 12 subjects with Ellis-Van Creveld syndrome was negative. This report identifies the implication of IFT57 in human pathology and highlights the first description of a ciliary transport defect in OFDS extending the genetic heterogeneity of this subgroup of ciliopathies.
novel transcription regulatory mechanism of REST by HIPPI may contribute to the deregulation of transcription observed in the cell model of Huntington disease.
Over-expression of BLOC1S2 in presence or absence of HIPPI does not induce apoptosis. However BLOC1S2 & HIPPI sensitize NCH89 glioblastoma cells to pro-apoptotic actions of staurosporine & death ligand TRAIL.
In summary we showed that HIPPI could interact with the putative promoter sequence of caspase-1 and increased the expression of the downstream gene suggesting that HIPPI could act as transcription regulator.
Crystals of the pDED of HIPPI were grown in space group P4(1) with unit-cell parameters a = b = 77.42 c = 33.31 A and a calculated Matthews coefficient of 1.88 A3 Da(-1) (33% solvent content) with two molecules per asymmetric unit.
Hippi expression induced apoptosis by releasing AIF and cytochrome c from mitochondria activation of caspase-1 and caspase-3 and altering the expression of apoptotic genes and genes involved in mitochondrial complex I and II.
Results show that pro-apoptotic Hippi-Hip-1 heterodimers can recruit procaspase-8 into a complex of Hippi Hip-1 and procaspase-8 and launch apoptosis through components of the 'extrinsic' cell-death pathway.
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